Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglyc... |
OMIM:232700 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, L... |
OMIM:612526 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomega... |
OMIM:614480 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Hypertriglyceridemia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentra... |
OMIM:603552 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Insulin-resistan... |
ORPHA:280356 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, E... |
ORPHA:293964 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Failure to thrive, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopen... |
OMIM:615285 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... |
OMIM:601820 |
Morbid Obesity And Spermatogenic Failure |
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Type II diabetes mellitus, Insulin resistance, Obesity, Hepatic steatosis, Increased LDL choleste... |
OMIM:615703 |
Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Pulmonary edema, Postnatal growth retardation, Supraventricular ar... |
ORPHA:75249 |
Lipodystrophy, Familial Partial, Type 3 |
|
Cirrhosis, Hyperinsulinemia, Hyperuricemia, Loss of gluteal subcutaneous adipose tissue, Reduced ... |
OMIM:604367 |
Glycogen Storage Disease Ixa1 |
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Hyperuricemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypercholesterolemia, H... |
OMIM:306000 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... |
OMIM:617158 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Inflammatory myopathy, Skeletal muscl... |
ORPHA:611 |
Gne Myopathy |
|
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... |
ORPHA:602 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegal... |
OMIM:278000 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Pancytopenia, Pr... |
OMIM:617872 |
Glycogen Storage Disease Ixc |
|
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Bile ... |
OMIM:613027 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Z-band streaming, Autophagic vacuoles, Internally... |
OMIM:618655 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly, Weight loss |
ORPHA:52416 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato... |
OMIM:610717 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis, Insulin resistance, Hepatic steatosis, Lipoatrophy, Generalized hirsutism |
ORPHA:79087 |
Glycogen Storage Disease Ixb |
|
Hyperuricemia, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Increased muscle g... |
OMIM:261750 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr... |
ORPHA:369 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Leukemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicular ... |
OMIM:614470 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Prolonged neonatal jaundice, Reduced circulating growth hormone concentration, Decreased serum in... |
OMIM:262400 |
Short Stature Due To Ghsr Deficiency |
|
Decreased body weight, Abnormality of body weight, Delayed puberty, Hypoglycemia, Decreased serum... |
ORPHA:314811 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... |
OMIM:300400 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Steatorrhea,... |
OMIM:607765 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly |
OMIM:616622 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Smal... |
ORPHA:324575 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Progressive loss of facial adipose tissue, Hepatic stea... |
OMIM:608709 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Polycystic ovaries, H... |
ORPHA:79084 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Hepatic failure, Anemia, Reduced natural killer cell count, Hypertriglyce... |
ORPHA:158057 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Jaundice, Pancytopenia, Hypopigmentation of hair, Lymphadenopathy, Hem... |
ORPHA:79477 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Neutropenia |
OMIM:616022 |
Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Lipodystrophy, Polycystic ovaries, Decreased serum leptin,... |
ORPHA:79085 |
3-Methylglutaconic Aciduria Type 1 |
|
Failure to thrive, Hypoglycemia, Hepatomegaly |
ORPHA:67046 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Small for gestation... |
ORPHA:79237 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, Lipoat... |
OMIM:613877 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ... |
ORPHA:435660 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Hepatic steatosis, Lipodystrophy, Polycystic ovaries... |
ORPHA:435651 |
Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Small for gestational age, Diabetic ketoaci... |
ORPHA:99886 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
Omenn Syndrome |
|
Alopecia, Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphade... |
OMIM:603554 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia, Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Insulin resist... |
ORPHA:181393 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... |
ORPHA:75564 |
Immunodeficiency 110 With Lymphoproliferation |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis, Primary gonadal insufficiency, Hypertriglyceridemia, Insulin-resistant diabete... |
ORPHA:436182 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:609016 |
Hemochromatosis, Type 3 |
|
Cirrhosis, Anemia, Elevated transferrin saturation, Elevated hepatic transaminase, Lymphopenia, I... |
OMIM:604250 |
Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... |
ORPHA:57777 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... |
OMIM:617300 |
Lipodystrophy, Familial Partial, Type 5 |
|
Increased C-peptide level, Diabetic ketoacidosis, Hepatic steatosis, Lipodystrophy, Decreased ser... |
OMIM:615238 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos... |
OMIM:616829 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Insulin resistance, Elevated circulating creatine kinas... |
OMIM:615980 |
Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis... |
ORPHA:552 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Elevated circulating alanine aminotransferase concentration, ... |
ORPHA:158061 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Shortened PR in... |
OMIM:261740 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Neutropenia |
ORPHA:90023 |
Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Failure to thrive, Hepatomegaly,... |
OMIM:615387 |
Hemochromatosis, Type 4 |
|
Anemia, Cirrhosis, Impaired glucose tolerance, Elevated transferrin saturation, Hepatic steatosis... |
OMIM:606069 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Increased variability in muscle fiber diameter, Myofiber disarray, Fatty replacement of skeletal ... |
OMIM:301075 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Small for gestational age, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure, Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Cirrhosis, Hyperinsulinemia, Increased C-peptide level, Adipose ti... |
ORPHA:528 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Pedal edema, Abnormal pulmonary interstitia... |
ORPHA:330001 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Gonadotropin deficiency, Increased adipose tis... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Gonadotropin deficiency, Increased adipose tis... |
ORPHA:71526 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Prolonged neonatal jaundice, Increase... |
ORPHA:446 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated circulating a... |
OMIM:615158 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatic steatosis, Hirsutism, Increased intraabdominal fat, ... |
OMIM:151660 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,... |
OMIM:619868 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
OMIM:608099 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Muscle fiber atrophy, Qua... |
ORPHA:206549 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Anemia, Failure to thrive, Hyperammonemia, Hepatomegaly, Thrombocytopenia, Neutrope... |
ORPHA:79312 |
Galactose Epimerase Deficiency |
|
Weight loss, Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:79238 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose ... |
ORPHA:363400 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Splenomegaly, Cellulitis, Insulin resistance, Hepatic steatosis, Lipodystrophy, Polycystic ovarie... |
ORPHA:2348 |
Pparg-Related Familial Partial Lipodystrophy |
|
Cirrhosis, Splenomegaly, Hyperuricemia, Maternal diabetes, Insulin resistance, Hepatic steatosis,... |
ORPHA:79083 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatic failure, Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytope... |
OMIM:308240 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Decreased plasma fr... |
OMIM:619048 |
Respiratory Distress Syndrome In Premature Infants |
|
Edema, Pulmonary edema, Atelectasis |
OMIM:267450 |
Mirage Syndrome |
|
Leukopenia, Anemia, Decreased body weight, Decreased testicular size, Adrenal insufficiency, Hype... |
OMIM:617053 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Insulin Autoimmune Syndrome |
|
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... |
ORPHA:411593 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Failure to thrive, Anemia, Hypoglycemia |
OMIM:610090 |
Absence Of The Pulmonary Artery |
|
Pedal edema, Systolic heart murmur, Truncus arteriosus, Abnormal cardiac septum morphology, Bronc... |
ORPHA:980 |
Primary Lipodystrophy |
|
Cirrhosis, Splenomegaly, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Lipody... |
ORPHA:90970 |
Mu-Heavy Chain Disease |
|
Anemia, Weight loss, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:100024 |
Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Respiratory tract infection, Pulmonary edema, Cardiac arrest, Pneumonia, Bradycardia... |
ORPHA:70587 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Elevated hepatic transaminase, Steatorrhea, Hepatic steatosis, Failure to t... |
ORPHA:71 |
3-Methylglutaconic Aciduria Type 4 |
|
Decreased liver function, Failure to thrive, Thrombocytopenia, Hypoglycemia |
ORPHA:67048 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Weight loss, Increased serum serotonin, Neuroendocrine neopla... |
ORPHA:100083 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Jaundice, Elevated hepatic transaminase, Decreased proportion of CD4-positive T cells, Hepatic st... |
OMIM:301045 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreas... |
ORPHA:169154 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Decreased circulating free... |
ORPHA:276575 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... |
OMIM:620058 |
Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating creatine kinase concentrati... |
OMIM:232400 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular ... |
ORPHA:370 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Large f... |
ORPHA:276580 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Insul... |
OMIM:615381 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Failure to thrive, Hypoglycemia, Hyperammone... |
OMIM:251000 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato... |
ORPHA:264580 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615395 |
Short Stature Due To Partial Ghr Deficiency |
|
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 |
ORPHA:314802 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss, Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:86893 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Neonatal hypoglycemia, Truncal obesity |
OMIM:240900 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis, Failure to thrive, Elevated circulating acylcarnitine concentration, Ketotic h... |
ORPHA:26792 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Type I diabetes mellitus, Autoimmune hemolytic anemia, Lymphadenopathy, Hemoph... |
OMIM:301078 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... |
ORPHA:276556 |
Mast Cell Sarcoma |
|
Weight loss, Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... |
OMIM:618986 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Abnormal T cell morphology, Neutropenia, Absent circulating B cells |
OMIM:613501 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death, Neutropenia, Eosinophilia |
OMIM:257100 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Failure to thrive, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
Spinal Muscular Atrophy, Type Iv |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina... |
OMIM:271150 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Hepatic steatosis, Elevated hepatic transaminase, Mildly elevated creatine kinase |
OMIM:618400 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Neutropenia, Elevated hepatic transaminase, Steatorrhea |
OMIM:618752 |
African Iron Overload |
|
Abnormal thyroid morphology, Hepatic fibrosis, Increased circulating cortisol level, Abnormality ... |
ORPHA:139507 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypothyroidism, Hypopituitarism, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steat... |
OMIM:619013 |
Ornithine Transcarbamylase Deficiency |
|
Hepatic failure, Hyperammonemia, Splenomegaly, Hypoglycemia |
ORPHA:664 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscl... |
OMIM:615424 |
Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... |
OMIM:615897 |
Hemochromatosis, Neonatal |
|
Hepatic failure, Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hepatocellular nec... |
OMIM:231100 |
Wilson Disease |
|
Cirrhosis, Anemia, Weight loss, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepatic steat... |
ORPHA:905 |
X-Linked Agammaglobulinemia |
|
Alopecia, Anemia, Weight loss, Cellulitis, Hepatitis, Hypocalcemia, Abnormality of the lymphatic ... |
ORPHA:47 |
Aggressive Systemic Mastocytosis |
|
Anemia, Weight loss, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Thrombocyt... |
ORPHA:98850 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Skeletal mu... |
ORPHA:34516 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hyperglycinemia, Ad... |
OMIM:619386 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Leishmaniasis |
|
Leukopenia, Anemia, Weight loss, Abnormal macrophage morphology, Elevated hepatic transaminase, P... |
ORPHA:507 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Autoi... |
OMIM:617514 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... |
OMIM:251880 |
Pearson Syndrome |
|
Hypothyroidism, Adrenal insufficiency, Elevated hepatic transaminase, Reticulocytosis, Hepatic st... |
ORPHA:699 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Anemia, Hypothyroidism, Hepatitis, Coombs-positive hemolytic anemia, Type I diabetes me... |
OMIM:304790 |
Hypobetalipoproteinemia, Familial, 1 |
|
Elevated circulating alanine aminotransferase concentration, Decreased LDL cholesterol concentrat... |
OMIM:615558 |
Insulin-Resistance Syndrome Type B |
|
Biliary cirrhosis, Abnormal circulating lipid concentration, Decreased body weight, Hyperinsuline... |
ORPHA:2298 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Type II diabetes mel... |
ORPHA:71529 |
Hodgkin Lymphoma |
|
Weight loss, Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:98293 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Increased adipose t... |
OMIM:608600 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Systemic Capillary Leak Syndrome |
|
Hypotension, Pedal edema, Pulmonary edema, Pericarditis, Pleural effusion, Arrhythmia, Myocarditis |
ORPHA:188 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
Propionic Acidemia |
|
Anemia, Hyperglycinemia, Pancytopenia, Failure to thrive, Hypoglycemia, Hyperammonemia, Hepatomeg... |
OMIM:606054 |
Tubular Aggregate Myopathy |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, EMG: ... |
ORPHA:2593 |
Wolcott-Rallison Syndrome |
|
Central hypothyroidism, Hypothyroidism, Neonatal insulin-dependent diabetes mellitus, Abnormality... |
ORPHA:1667 |
Felty Syndrome |
|
Anemia, Weight loss, Cellulitis, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Thro... |
ORPHA:47612 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hypercholesterolemia, Cirrhosis, Hepatic failure, Decreased circulating ceruloplasmin concentrati... |
OMIM:616828 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Brain abscess, Abnormal test... |
ORPHA:54251 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin ... |
OMIM:262700 |
Immunodeficiency 27A |
|
Anemia, Weight loss, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocyt... |
OMIM:209950 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Premature graying of hair, Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, Hepatic... |
ORPHA:280365 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoglycemic seizures, Abnormality of the pancr... |
OMIM:606762 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Small for gestational age, Jau... |
ORPHA:567983 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:614082 |
Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Pedal edema, Hemothorax, Pulmonary edema, Pericardial effusio... |
ORPHA:199241 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythroid hypoplasia, Hepatosplen... |
OMIM:612541 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Increased circulating cortisol... |
ORPHA:79644 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... |
OMIM:602450 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Hypertriglyceridemia, Jaundice, Elevated hepatic transaminase, Lymphadenopathy, Increased... |
ORPHA:540 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles |
ORPHA:270 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:612999 |
Wolman Disease |
|
Anemia, Hepatic failure, Adrenal insufficiency, Cachexia, Steatorrhea, Bone-marrow foam cells, He... |
ORPHA:75233 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
Acquired Generalized Lipodystrophy |
|
Cirrhosis, Hyperinsulinemia, Abnormal circulating lipid concentration, Insulin resistance, Hepati... |
ORPHA:79086 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Hyperammonemia, Hepatomegaly, Thrombocytopenia, Neutropenia, Pancreatitis |
ORPHA:289916 |
Immunodeficiency 46 |
|
Failure to thrive, Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
Peroxisome Biogenesis Disorder 3B |
|
Very long chain fatty acid accumulation, Elevated circulating phytanic acid concentration, Steato... |
OMIM:266510 |
Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hypertriglycerid... |
ORPHA:158048 |
Familial Chylomicronemia Syndrome |
|
Recurrent pancreatitis, Decreased body weight, Perianal abscess, Jaundice, Hepatosplenomegaly, He... |
ORPHA:444490 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level,... |
ORPHA:71212 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Hepatomegaly, Fai... |
OMIM:618805 |
Reticular Dysgenesis |
|
Leukopenia, Anemia, Weight loss, Aplasia/Hypoplasia of the thymus, Abnormality of neutrophils, Fa... |
ORPHA:33355 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Elevated h... |
OMIM:255120 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia, Adrenal calcification, ... |
ORPHA:75234 |
Adult Acute Respiratory Distress Syndrome |
|
Hypotension, Pulmonary edema, Shock, Pneumonia, Vasculitis |
ORPHA:70578 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Wolfram Syndrome, Mitochondrial Form |
|
Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Diabetes mellitus, Thrombocytopen... |
OMIM:598500 |
Neonatal Lupus Erythematosus |
|
Hepatic failure, Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Elevated hepati... |
ORPHA:398124 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... |
OMIM:619041 |
Glutathione Synthetase Deficiency |
|
Neutropenia, Hemolytic anemia |
OMIM:266130 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... |
OMIM:615160 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Carcinoma Of Esophagus |
|
Lymphadenopathy, Obesity, Weight loss |
ORPHA:70482 |
Immunodeficiency 102 |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Reduced natural killer cell count,... |
OMIM:301082 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholesterol gallstones, Obesity, Hepatic steatosis, Increased LDL cholesterol concentr... |
ORPHA:209902 |
Refractory Anemia |
|
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane... |
ORPHA:98826 |
Infantile Liver Failure Syndrome 1 |
|
Anemia, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Macrocytic anemia, H... |
OMIM:615438 |
Citrullinemia, Type Ii, Adult-Onset |
|
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc... |
OMIM:603471 |
Transcobalamin Deficiency |
|
Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia |
ORPHA:859 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... |
OMIM:614172 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypoglycemia, Hypogonadism |
OMIM:616113 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:619220 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Elevated hepatic transaminase, Hyperlipidemia, Hyperglycemia, Obesity |
ORPHA:329249 |
Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities |
OMIM:600334 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... |
OMIM:608594 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Hyperuricemia, Elevated hepatic transaminase, Hepatocellular carcinoma, Hypoglycemi... |
OMIM:232220 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Anemia, Ketotic hypoglycemia, Elevated hepatic... |
ORPHA:79240 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Elevated circulating alanine aminotransferase concentration, Microvesicular hepat... |
OMIM:605814 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hepatic steatosis, Failure to thrive, Elevated hepatic transaminase, Decreased liver function |
OMIM:617093 |
Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thromb... |
OMIM:185070 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Weight loss, Neoplasm of the liver, Abnormality of the peritoneum, Hypoglycemia, Hypophosphatemic... |
ORPHA:2126 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hypoplasia of the thymus, Joint contracture of the hand, Jaundice, Camptodactyly, Elevated circul... |
OMIM:214110 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hypoglycemia, Increased serum pyruvate, Hepatomegaly, Decreased li... |
OMIM:246900 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Cirrhosis, Microvesicular hepatic steatosis, Anemia, Polysplenia, Macronodular cirrhosis, Neonata... |
OMIM:619418 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Jaundice, Extramedullary hematopoiesis, Elevated hepatic transaminase, Abnormal ... |
ORPHA:79303 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Failure to thrive, Hypocalcemia |
OMIM:602361 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Hyperalaninemia, Neonatal hypoglycemia, Failure to thrive, Increased serum pyruvate, Macrocytic a... |
OMIM:619046 |
Follicular Lymphoma |
|
Weight loss, Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lymphadenopathy, Splenom... |
ORPHA:545 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... |
OMIM:159550 |
Immunodeficiency 47 |
|
Hypercholesterolemia, Leukopenia, Hepatic fibrosis, Elevated circulating alanine aminotransferase... |
OMIM:300972 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... |
OMIM:609968 |
Acute Myelomonocytic Leukemia |
|
Anemia, Weight loss, Leukocytosis, Eosinophilia, Thrombocytopenia |
ORPHA:517 |
Syndromic Diarrhea |
|
Hypothyroidism, Hepatic fibrosis, Cirrhosis, Abnormality of the liver, Hypoplasia of the thymus, ... |
ORPHA:84064 |
Ovarian Hyperstimulation Syndrome |
|
Hypovolemia, Pulmonary edema, Pleural effusion, Peripheral edema, Capillary leak, Ascites, Genera... |
ORPHA:64739 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Pulmonary edema, Heart block, Pleural ef... |
ORPHA:542323 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Neutropenia |
OMIM:606843 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hypoglycemia, Increased serum pyruvate, Hepatomegaly |
OMIM:614741 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Cachexia, Elevated hepatic transaminase, Elevated circulating creatine kin... |
ORPHA:42 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:66628 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... |
OMIM:253700 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Flexion contracture, Elevated hepatic transaminase, Insulin resistance, Elevate... |
OMIM:613327 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss, Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Hepatomegal... |
ORPHA:3226 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Increased serum iron, Periportal fibrosis, Decrease... |
ORPHA:101330 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Pfapa Syndrome |
|
Weight loss, Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:42642 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatic failure, Decreased plasma carnitine, Elevated hepatic transaminase, Elevated plasma branc... |
ORPHA:2394 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Hepatomegaly, Cryptorchidism |
OMIM:618958 |
Specific Granule Deficiency 2 |
|
Anemia, Absent neutrophil specific granules, Failure to thrive, Hirsutism, Amelogenesis imperfect... |
OMIM:617475 |
Truncus Arteriosus |
|
Truncus arteriosus, Pulmonary hypoplasia, Tachycardia, Pulmonary artery stenosis, Ventricular sep... |
ORPHA:3384 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Enamel hypoplasia, Hypoplasia of the thymus, Interface hepatitis, Lymphopenia, Impaired lymphocyt... |
OMIM:243150 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Alopecia, Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperpla... |
ORPHA:189427 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypocholesterolemia, Hyp... |
OMIM:246700 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly |
OMIM:619164 |
Cyclic Neutropenia |
|
Perianal abscess, Cellulitis, Peritonitis, Decreased eosinophil count, Lymphopenia, Lymphadenopat... |
ORPHA:2686 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
T lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Sclerosing cholangitis, ... |
ORPHA:572 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... |
OMIM:269700 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Alopecia, Increased circulating cortisol level, Abnormal subcutaneous fat tissue distribution, Ty... |
ORPHA:189439 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Elevated hepatic transaminase, Large for ... |
ORPHA:263455 |
Acth Deficiency, Isolated |
|
Jaundice, Decreased circulating cortisol level, Cholestasis, Fasting hypoglycemia, Adrenocorticot... |
OMIM:201400 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Anemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentration,... |
OMIM:618835 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Anemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentration,... |
OMIM:618839 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:179494 |
Fanconi-Bickel Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... |
ORPHA:2088 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Short stature, Small for gestational age, Failure to thrive, Severe intrauterine growth retardati... |
ORPHA:231144 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Hepatic fibrosis, Neutropenia, Premature graying of hair, Pancytopenia, White foreloc... |
OMIM:613989 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Carnitine Deficiency, Systemic Primary |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Im... |
OMIM:212140 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... |
ORPHA:247598 |
Pyridoxal Phosphate-Responsive Seizures |
|
Abnormal circulating threonine concentration, Pyridoxine-responsive sideroblastic anemia, Abnorma... |
ORPHA:79096 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Flexion contracture, Elevated hepatic transaminase, Lymphopenia, Lipodystrophy, Lymphaden... |
OMIM:617591 |
Mogs-Cdg |
|
Polyhydramnios, Pulmonary edema, Left ventricular hypertrophy, Atrial septal defect, Edema, Cardi... |
ORPHA:79330 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased LDL cholesterol concentration, Failure to thrive, Delayed puberty, Decreased HDL choles... |
OMIM:616834 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Elevated circulating alanine aminotransferase concentration, Impaired gluconeoge... |
OMIM:261680 |
Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia, Hepatomegaly |
ORPHA:35 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Hepatomegaly, Eosinophilia, Impaired oxid... |
OMIM:226990 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... |
ORPHA:66529 |
Glycerol Kinase Deficiency |
|
Small for gestational age, Adrenal insufficiency, Adrenocortical hypoplasia, Hypoglycemia, Crypto... |
OMIM:307030 |
Necrotizing Enterocolitis |
|
Abnormal glucose homeostasis, Small for gestational age, Thrombocytopenia, Leukocytosis, Hyponatr... |
ORPHA:391673 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Hypoglycemia, Hyperammonemia, Neutropenia, Sparse hair |
OMIM:618253 |
Mehmo Syndrome |
|
Decreased response to growth hormone stimulation test, Small for gestational age, Male hypogonadi... |
OMIM:300148 |
3-Methylglutaconic Aciduria Type 7 |
|
Hypothyroidism, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Infectio... |
ORPHA:445038 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Inguinal hernia, Failure to thriv... |
OMIM:614857 |
Infantile Liver Failure Syndrome 3 |
|
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Hyperammon... |
OMIM:618641 |
Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Weight loss, Hepatitis, Normocytic anemia, Decreased circulating ACTH level, Decre... |
ORPHA:199299 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Abnormal testis morphology, Aplasia/Hypoplasia of the thymus, Type II ... |
ORPHA:100 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Precocious puberty, Small for gestational age, Diabetic ketoacidosis, Hypoglyce... |
OMIM:262190 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas... |
OMIM:607594 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Brittle hair, Hydrocele testis, Hepatomegaly, Hypocholesterolemia, Neonatal death |
OMIM:618810 |
Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Splenomegaly, Anemia, Flexion contracture, Synophrys, Long eyelashes, Hirsutism, Bone... |
OMIM:617303 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Neutropenia |
OMIM:613502 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Alopecia, Decreased circulating follicle stimulating hormone concentratio... |
ORPHA:453533 |
Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Maternal diabetes |
ORPHA:464370 |
Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Failure to thrive, Giant plate... |
OMIM:169400 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Cirrhosis, Hemolytic anemia, Hepatitis, Sclerosing cholangitis, Enlarged tonsils, Failure to thri... |
OMIM:308230 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Hypoamylasemia, Impaired neutrophil chemotaxis, Elevated hepatic transami... |
ORPHA:811 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Neutropenia, Acute lymphoblastic leukemia |
OMIM:610738 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Hepatic steatosis, Lipodystrophy, Failure to thrive, Primary hypot... |
ORPHA:300536 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... |
OMIM:242700 |
Patent Ductus Venosus |
|
Hepatic steatosis, Hyperammonemia, Hypergalactosemia, Decreased liver function |
OMIM:601466 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Hyper... |
OMIM:614736 |
Thymic Neuroendocrine Tumor |
|
Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ... |
ORPHA:97289 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatic failure, Elevated hepatic transaminase, Transient hyperlipidemia, Hypoglycemia, Hepatomegaly |
ORPHA:156 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Glycosuria, Elevated hepatic transaminase, Failure to thrive, Postprandial ... |
ORPHA:2089 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Aredyld Syndrome |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Type II diabetes mellitus, Cachexia, Type I ... |
ORPHA:1133 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia, Hyponatremia |
OMIM:616949 |
Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Jaundice, Silver-gray hair, Giant neutrophil granules, Lymphadenopathy, Hypop... |
OMIM:214500 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis, Hyperalaninemia, Neonatal death, Hyperprolinemia |
OMIM:615918 |
Insulinoma |
|
Hyperinsulinemia, Abnormality of the pancreatic islet cells, Nonketotic hypoglycemia, Neuroendocr... |
ORPHA:97279 |
Ataxia-Telangiectasia |
|
Female hypogonadism, Hypoplasia of the thymus, T lymphocytopenia, Glucose intolerance, Acute lymp... |
OMIM:208900 |
Alstrom Syndrome |
|
Alopecia, Hyperinsulinemia, Hyperuricemia, Decreased response to growth hormone stimulation test,... |
OMIM:203800 |
Immunodeficiency 9 |
|
Amelogenesis imperfecta, Hypoplasia of the thymus, Failure to thrive |
OMIM:612782 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatic failure, Anemia, Reticulocytopenia, Small for gestational age, Hyperbilirubinemia, Refrac... |
OMIM:557000 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypothyroidism, Decreased prealbumin level, Cachexia, Elevated hepatic transaminase, Abnormal blo... |
ORPHA:37042 |
Squalene Synthase Deficiency |
|
Knee flexion contracture, Decreased LDL cholesterol concentration, Abnormality of hair pigmentati... |
OMIM:618156 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Abnormal circulating creatine kinase concentration, Alopecia, Abnormal granulocyte morphology, El... |
ORPHA:98907 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Elevated circulatin... |
OMIM:617950 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Elevated circulating alanine aminotransferase concentration, Hemolytic anemia, Coombs-p... |
OMIM:614034 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Citrullinemia Type Ii |
|
Hypercholesterolemia, Hepatic fibrosis, Elevated hepatic transaminase, Hepatocellular carcinoma, ... |
ORPHA:247585 |
Combined Malonic And Methylmalonic Acidemia |
|
Methylmalonic acidemia, Elevated hepatic transaminase, Dicarboxylic acidemia, Failure to thrive, ... |
ORPHA:289504 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
Nephrotic Syndrome, Type 14 |
|
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Lymphopenia, Hypoglycemia, Cryptorchidism, H... |
OMIM:617575 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Very long chain fatty acid accumulation, Diffuse hepatic steatosis, Elevated hepatic transaminase... |
OMIM:264470 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Nonketotic hypoglycemia, Decreased plasma carni... |
ORPHA:99901 |
Bone Marrow Failure Syndrome 6 |
|
Hypothyroidism, Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, In... |
OMIM:618849 |
Congenital Enterovirus Infection |
|
Leukopenia, Hepatic failure, Anemia, Abnormal macrophage morphology, Hepatitis, Hyperammonemia, C... |
ORPHA:292 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypothyroidism, Hepatic fibrosis, Flexion contracture, Abnormal subcutaneous fat tissue distribut... |
OMIM:212065 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Small for gestational age, Elevated hepatic transaminase, Pancyto... |
OMIM:260400 |
Dysbetalipoproteinemia |
|
Hypercholesterolemia, Hypothyroidism, Obesity, Hepatic steatosis, Diabetes mellitus, Acute pancre... |
ORPHA:412 |
Donohue Syndrome |
|
Hepatic fibrosis, Hyperinsulinemia, Precocious puberty, Adipose tissue loss, Severe failure to th... |
OMIM:246200 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Neutropenia |
ORPHA:2643 |
Growth Hormone Deficiency, Isolated Partial |
|
Short stature, Postnatal growth retardation |
OMIM:615925 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Seckel Syndrome 10 |
|
Elevated circulating alanine aminotransferase concentration, Impaired glucose tolerance, Glycosur... |
OMIM:617253 |
Rhabdoid Tumor |
|
Anemia, Weight loss, Neoplasm of the liver, Lymphadenopathy, Hypercalcemia, Thrombocytopenia |
ORPHA:69077 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Asplenia, Cirrhosis, Alopecia, Hypothyroidism, Hyperthyroidism, Hepatitis, Type II diabe... |
OMIM:269200 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Cellulitis, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Mono... |
ORPHA:486 |
Endocardial Fibroelastosis |
|
Anterior hypopituitarism, Hypoglycemia, Cryptorchidism |
ORPHA:2022 |
Autosomal Agammaglobulinemia |
|
Hepatitis, Failure to thrive, Neutropenia, Cellulitis |
ORPHA:33110 |
Methylcobalamin Deficiency Type Cble |
|
Abnormality of the liver, Hyperhomocystinemia, Hypomethioninemia, Pancytopenia, Failure to thrive... |
ORPHA:2169 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Hemophagocytosis, Panniculitis, Hepatosplenomegaly |
ORPHA:86884 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Ethylene Glycol Poisoning |
|
Hypotension, Cerebral edema, Pulmonary edema, Renal tubular epithelial necrosis, Congestive heart... |
ORPHA:31826 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Jaundice... |
OMIM:617049 |
Cocaine Intoxication |
|
Hypotension, Pneumothorax, Ischemic stroke, Rhabdomyolysis, Hypovolemia, Cerebral hemorrhage, Ven... |
ORPHA:90068 |
Tangier Disease |
|
Anemia, Hepatosplenomegaly, Hypocholesterolemia, Orange discolored tonsils, Chronic noninfectious... |
ORPHA:31150 |
Methylmalonic Aciduria, Cblb Type |
|
Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Failure to thrive, Hyperammonemia,... |
OMIM:251110 |
Bardet-Biedl Syndrome 19 |
|
Hepatic steatosis, Obesity, Hypogonadism |
OMIM:615996 |
Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Hyperalaninemia, Increased serum pyruvate, Hepatomegaly |
OMIM:266150 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hy... |
ORPHA:35878 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Alopecia, T lymphocytopenia, Multiple joint contractures, Decreased serum estradiol, Small for ge... |
ORPHA:2959 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, Hypothyroidism, B lymphocytopenia, Thyroiditis, Generalized lymphadenopathy,... |
OMIM:614700 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Elevated hepatic transaminase, Elevated circulating creatine kinase con... |
OMIM:600649 |
Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
Schimke Immuno-Osseous Dysplasia |
|
Anemia, Abnormality of thyroid physiology, Small for gestational age, Lymphopenia, Failure to thr... |
ORPHA:1830 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Cirrhosis, Abnormality of iron homeostasis, Weight loss, Elevated transferrin sat... |
ORPHA:465508 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypothyroidism, Hepatocellular carcinoma, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Hypercho... |
ORPHA:79259 |
Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
Lysosomal Acid Lipase Deficiency |
|
Cachexia, Elevated hepatic transaminase, Primary adrenal insufficiency, Hepatosplenomegaly, Bone-... |
ORPHA:275761 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, Panniculitis, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia |
OMIM:615401 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypothyroidism, Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, Hepatomegal... |
OMIM:613673 |
Slc35A1-Cdg |
|
Cellulitis, Abnormal platelet granules, Giant platelets, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Decreased circulating ceruloplasmin concentration, Increased circulating copper concen... |
ORPHA:209919 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Intrauterine growth retardation, Postnatal growth retardation |
OMIM:600546 |
3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Flexion contracture, Neonatal hypoglycemia, Hepatic steatosis, Thrombocytopenia, Neut... |
OMIM:616271 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Type I diabetes mellitus, Autoimmune hem... |
ORPHA:436252 |
Congenital Isolated Acth Deficiency |
|
Hepatitis, Decreased circulating cortisol level, Hyperkalemia, Neonatal hypoglycemia, Adrenocorti... |
ORPHA:199296 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormality of the peritoneum, Weight loss |
ORPHA:2023 |
Methylmalonic Aciduria, Cbla Type |
|
Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Failure to thrive, Hyperammonemia,... |
OMIM:251100 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia, Failure to thrive, Hypothyroidism, Small for gestational age |
OMIM:610883 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Diabetes insipidus, Decreased LDL cholesterol concentration, Decreased body weight, Type I diabet... |
ORPHA:96180 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Elevated circulating alpha-fetoprotein concentration, Bone marrow hypocellularity, Thromb... |
OMIM:617243 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Large for gestational age, Failure to thrive, Bone marrow hypocellularity, Thrombocytopen... |
OMIM:614520 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ... |
OMIM:603909 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
2P21 Microdeletion Syndrome |
|
Hypogonadism, Long eyelashes, Failure to thrive, Hypoglycemia, Hypocalcemia |
ORPHA:163693 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hypoketotic hypoglycemia, Hepatic failure, Elevated circulating acylcarnitine concentration, Decr... |
ORPHA:228305 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Small for gestational age, Hypoglycemia, Decreased body weight, Neonatal hypoglycemia |
ORPHA:231140 |
Abetalipoproteinemia |
|
Hypothyroidism, Hepatic fibrosis, Cirrhosis, Anemia, Decreased LDL cholesterol concentration, Hyp... |
ORPHA:14 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Anemia, Decreased circulating cortisol level,... |
OMIM:618838 |
Caroli Disease |
|
Hepatic fibrosis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration,... |
ORPHA:53035 |
Classic Hodgkin Lymphoma |
|
Weight loss, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Splenomegaly |
ORPHA:391 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Hyperammonemia, Failure to thrive in infancy, Abnormal circulating leucine concentr... |
ORPHA:6 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Elevated circulating thyroid-stimulating hormone concentration, Elevated hepat... |
ORPHA:94086 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy, Hernia, Abnormality of the peritoneum, Weight loss |
ORPHA:26790 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis |
ORPHA:139436 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Anemia, Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Small for gestational age... |
OMIM:277380 |
Primary Myelofibrosis |
|
Anemia, Extramedullary hematopoiesis, Cachexia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis,... |
ORPHA:824 |
Desmoplastic Small Round Cell Tumor |
|
Anemia, Weight loss, Neoplasm of the pancreas, Cachexia, Abnormality of the peritoneum, Lymphaden... |
ORPHA:83469 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Elevated circulating alanine aminotransferase concentration, Cirrhosis... |
ORPHA:90003 |
Alg12-Cdg |
|
Hyponatremia, B lymphocytopenia, Elevated hepatic transaminase, Camptodactyly, Failure to thrive,... |
ORPHA:79324 |
Letterer-Siwe Disease |
|
Anemia, Jaundice, Hepatosplenomegaly, Thrombocytopenia, Neutropenia |
OMIM:246400 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cirrhosis, Weight loss, Jaundice, Hepatocellular carcinoma, Elevated hepatic tran... |
ORPHA:65682 |
Acute Promyelocytic Leukemia |
|
Leukopenia, Anemia, Weight loss, Pancytopenia, Lymphadenopathy, Leukocytosis, Thrombocytopenia, N... |
ORPHA:520 |
X-Linked Severe Congenital Neutropenia |
|
Neutropenia, Monocytopenia |
ORPHA:86788 |
Cohen Syndrome |
|
Leukopenia, Childhood-onset truncal obesity, Decreased response to growth hormone stimulation tes... |
OMIM:216550 |
Ogden Syndrome |
|
Torsade de pointes, Secundum atrial septal defect, Pulmonary hypoplasia, Premature atrial contrac... |
OMIM:300855 |
Chédiak-Higashi Syndrome |
|
Elevated hepatic transaminase, Large clumps of pigment irregularly distributed along hair shaft, ... |
ORPHA:167 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypoglycemia, T... |
OMIM:611126 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Weight loss, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticu... |
ORPHA:35858 |
Hemochromatosis Type 4 |
|
Hepatic steatosis, Cirrhosis, Increased circulating ferritin concentration, Congenital hepatic fi... |
ORPHA:139491 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cirrhosis, Anemia, Hyperalaninemia, Weight loss, Cachexia, Elevated hepatic transaminase, Hypergo... |
ORPHA:298 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Anemia, Hyperuricemia, Decreased plasma carnitine, Hypoglycemia, Hyperammonemia, Hepatomegaly |
OMIM:246450 |
Laron Syndrome |
|
Hypercholesterolemia, Delayed puberty, Hypoglycemia, Truncal obesity, Abnormality of the endocrin... |
ORPHA:633 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepat... |
OMIM:201450 |
Rotor Syndrome |
|
Intermittent jaundice, Storage in hepatocytes, Jaundice, Hyperbilirubinemia, Conjugated hyperbili... |
ORPHA:3111 |
Sepsis In Premature Infants |
|
Anemia, Decreased body weight, Small for gestational age, Jaundice, Elevated circulating C-reacti... |
ORPHA:90051 |
Cystic Echinococcosis |
|
Ovarian cyst, Peritoneal abscess, Abnormality of the pancreas, Abnormality of the testis size, We... |
ORPHA:400 |
Fusariosis |
|
Brain abscess, Abnormality of the liver, Cellulitis, Granuloma, Peritonitis, Fasciitis, Lung absc... |
ORPHA:228119 |
Shwachman-Diamond Syndrome 2 |
|
Neutropenia, Normocytic anemia, Steatorrhea, Failure to thrive, Hepatomegaly, Exocrine pancreatic... |
OMIM:617941 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Elevated circulating alanine aminotransferase concentration, Hyperglycinemia, Hypertaurinemia, El... |
OMIM:245400 |
Glucocorticoid Deficiency 1 |
|
Abnormal response to ACTH stimulation test, Increased circulating ACTH level, Decreased circulati... |
OMIM:202200 |
Classic Galactosemia |
|
Hepatic failure, Jaundice, Abnormal erythrocyte enzyme level, Elevated hepatic transaminase, Hypo... |
ORPHA:79239 |
Majeed Syndrome |
|
Flexion contracture, Weight loss, Cachexia, Hypochromic microcytic anemia, Failure to thrive, Leu... |
ORPHA:77297 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Failure to thrive, Hypoglycemia, Hepatomegaly, Cholestatic liver disease |
ORPHA:5 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... |
OMIM:147630 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... |
OMIM:267700 |
Somatostatinoma |
|
Intermittent jaundice, Parathyroid adenoma, Neoplasm of the pancreas, Increased circulating gonad... |
ORPHA:97283 |
Dpm1-Cdg |
|
Knee flexion contracture, Hepatic fibrosis, Elevated hepatic transaminase, Camptodactyly, Hepatos... |
ORPHA:79322 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormal circulating lipid concentration, Flexion contracture, Lipoatrophy, Premature graying of ... |
ORPHA:1979 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hypothyroidism, Cirrhosis, Hepatitis, Hypersplenism, Neutropenia in presence of anti-neutropil an... |
ORPHA:228426 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly |
OMIM:618234 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Anemia, Neutropenia, Hyperuricemia |
OMIM:617056 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperuricemia, Hyperlipidemia |
ORPHA:364 |
Trichothiodystrophy 3, Photosensitive |
|
Trichorrhexis nodosa, Tiger tail banding, Brittle hair, Bilateral cryptorchidism, Lymphopenia, Fa... |
OMIM:616395 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss, Panniculitis, Splenomegaly, Hepatomegaly |
ORPHA:33577 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia, Stillbirth, Abnormal hair morphology, Intestinal lymphangi... |
OMIM:152800 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholang... |
ORPHA:69663 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Nonketotic hypoglycemia, Decreased plasma carnitine... |
OMIM:201475 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Hyperammonemia, Pancreatitis |
OMIM:620137 |
Scorpion Envenomation |
|
Rhabdomyolysis, Pulmonary edema, T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle br... |
ORPHA:466677 |
Transcobalamin Ii Deficiency |
|
Reticulocytopenia, Erythroid hypoplasia, Pancytopenia, Failure to thrive, Hepatomegaly, Macrocyti... |
OMIM:275350 |
Japanese Encephalitis |
|
Cerebral edema, Pulmonary edema, Elbow flexion contracture, Skeletal muscle atrophy, Distal lower... |
ORPHA:79139 |
Vipoma |
|
Intermittent jaundice, Parathyroid adenoma, Neoplasm of the pancreas, Neoplasm of the liver, Incr... |
ORPHA:97282 |
Beta-Ketothiolase Deficiency |
|
Hyperuricemia, Weight loss, Hypoglycemia, Hyperammonemia, Thrombocytosis, Leukocytosis, Hepatomeg... |
ORPHA:134 |
Bare Lymphocyte Syndrome, Type Ii |
|
Biliary tract abnormality, Cholangitis, Viral hepatitis, Failure to thrive, Neutropenia |
OMIM:209920 |
Developmental And Epileptic Encephalopathy 66 |
|
Synophrys, Anemia, Neutropenia, Cryptorchidism |
OMIM:618067 |
Isolated Anencephaly |
|
Maternal diabetes, Congenital diaphragmatic hernia, Omphalocele, Thymus hyperplasia, Adrenal hypo... |
ORPHA:563609 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Pleural Mesothelioma |
|
Weight loss, Lymphadenopathy, Hepatomegaly |
ORPHA:50251 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss |
ORPHA:33276 |
Poikiloderma With Neutropenia |
|
Sparse eyebrow, Leukopenia, Sparse lateral eyebrow, Elevated circulating creatine kinase concentr... |
OMIM:604173 |
Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Pulmonary ede... |
ORPHA:137675 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Fai... |
OMIM:608233 |
Refractory Celiac Disease |
|
Weight loss, Normocytic anemia, Hypophosphatemia, Elevated hepatic transaminase, Abnormal spleen ... |
ORPHA:398063 |
Mandibuloacral Dysplasia |
|
Alopecia, Hyperinsulinemia, Increased circulating free fatty acid level, Contractures of the larg... |
ORPHA:2457 |
Multiple Endocrine Neoplasia, Type I |
|
Increased circulating prolactin concentration, Parathyroid adenoma, Adenoma sebaceum, Increased c... |
OMIM:131100 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Postnatal growth retardation, Abdominal obesity, Short stature, Truncal obesity |
OMIM:618160 |
Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Elevated circulatin... |
OMIM:614582 |
Medullary Thyroid Carcinoma |
|
Weight loss, Nodular goiter, Pheochromocytoma, Elevated calcitonin, Lymphadenopathy, Medullary th... |
ORPHA:1332 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Congenital thrombocytopenia, Hydrocele testis, Thrombocytopenia, Neutropenia |
OMIM:616738 |
Budd-Chiari Syndrome |
|
Cirrhosis, Weight loss, Jaundice, Elevated hepatic transaminase, Cholecystitis, Hepatomegaly, Por... |
ORPHA:131 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hepatic steatosis, Hypopigmentation of hair, Failure to thrive, Decreased liver function |
ORPHA:70472 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hepatic necrosis, Hepatic steatosis, Hypoglycemic seizures, Fulminant h... |
OMIM:231530 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Small for gestational age, Hypoglycemia |
ORPHA:231147 |
Mulibrey Nanism |
|
Cachexia, Hepatomegaly |
ORPHA:2576 |
Hermansky-Pudlak Syndrome 10 |
|
Albinism, Neutropenia, Splenomegaly, Hepatomegaly |
OMIM:617050 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Elevated hepatic transaminase, Hepatosplenomegaly, Failure to thrive, Lymphadenopat... |
OMIM:619644 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concentratio... |
ORPHA:79284 |
Idiopathic Achalasia |
|
Decreased prealbumin level, Weight loss |
ORPHA:930 |
3-Methylglutaconic Aciduria, Type V |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, No... |
OMIM:610198 |
Hepatocellular Carcinoma |
|
Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hyponatremia, Thrombocytopenia, Hemobi... |
ORPHA:88673 |
Interstitial Lung And Liver Disease |
|
Hypothyroidism, Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ci... |
OMIM:615486 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Macroorchidism, Jaundice, Decreased circulating cortisol level, Hyperkalemia, Increased circulati... |
ORPHA:90790 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Female hypogonadism, Asplenia, Alopecia, Enamel hypoplasia, Hypothyroidism, Decreased circulating... |
OMIM:240300 |
Glucocorticoid Resistance, Generalized |
|
Increased serum testosterone level, Increased circulating cortisol level, Increased circulating A... |
OMIM:615962 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukopenia, Anemia, Hyperuricemia, Weight loss, Jaundice, Nonketotic hypoglycemia, Elevated hepat... |
ORPHA:20 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste... |
ORPHA:541423 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Failure to thrive, Absent tonsils, Absence of ... |
ORPHA:277 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Knee flexion contracture, Increased total bilirubin, Elevated circulating alanine aminotransferas... |
OMIM:608836 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent cir... |
OMIM:619705 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Obesity, Hyperlipidemia, Hypertrigl... |
OMIM:617885 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Microves... |
OMIM:256810 |
Pgm3-Cdg |
|
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... |
ORPHA:443811 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hypothyroidism, Neutropenia in presence of anti-neutropil antibodies, Type I diabetes mellitus, A... |
OMIM:615952 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hypothyroidism, Failure to thrive, Hypoglycemia, Hirsutism, Neutropenia, Joint contracture |
OMIM:618005 |
Diamond-Blackfan Anemia 11 |
|
Anemia, Anemia of inadequate production, Neutropenia, Bone marrow hypocellularity |
OMIM:614900 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Weight loss, Hyperkalemia, Increased circu... |
ORPHA:171876 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Extrahepatic cholestasis, Peritoneal abscess, Weight loss, Neoplasm of... |
ORPHA:1333 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly, Spherocytosis |
ORPHA:66518 |
Post-Traumatic Pituitary Deficiency |
|
Abnormality of secondary sexual hair, Decreased response to growth hormone stimulation test, Decr... |
ORPHA:95619 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Elevated circulating alanine aminotransferase concentration, Hyperbilirubinem... |
OMIM:614300 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Neonatal hypoglycemia, Elevated circulating creatine kinase concen... |
OMIM:212138 |
Smith-Kingsmore Syndrome |
|
Curly hair, Large for gestational age, Hypoglycemia, Cryptorchidism, Thrombocytopenia, Umbilical ... |
OMIM:616638 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Purine Nucleoside Phosphorylase Deficiency |
|
Increased circulating inosine concentration, Neutropenia in presence of anti-neutropil antibodies... |
OMIM:613179 |
Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hepatoblastoma, Hypoglycemia, Dela... |
OMIM:232240 |
Cronkhite-Canada Syndrome |
|
Sparse body hair, Alopecia, Anemia, Dystrophic toenail, Aplasia/Hypoplasia of the eyebrow, Cachex... |
ORPHA:2930 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Hypoglycemia, Failure to thrive, Acute hyperammonemia |
OMIM:210200 |
Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Leukopenia, Anemia, Enlargement of parotid gland, Alopecia, Weigh... |
ORPHA:50918 |
Pediatric-Onset Graves Disease |
|
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Increased circulating T4 concentr... |
ORPHA:525731 |
Gracile Syndrome |
|
Cirrhosis, Decreased transferrin saturation, Hepatic steatosis, Increased circulating ferritin co... |
ORPHA:53693 |
Hellp Syndrome |
|
Hypotension, Cerebral hemorrhage, Pulmonary edema, Internal hemorrhage, Pleural effusion, General... |
ORPHA:244242 |
Immunodeficiency 40 |
|
Elevated circulating alanine aminotransferase concentration, T lymphocytopenia, Eosinophilic gran... |
OMIM:616433 |
Schimke Immunoosseous Dysplasia |
|
Anemia, Abnormal T cell morphology, Elevated circulating thyroid-stimulating hormone concentratio... |
OMIM:242900 |
Zollinger-Ellison Syndrome |
|
Pituitary corticotropic cell adenoma, Pituitary null cell adenoma, Pituitary prolactin cell adeno... |
ORPHA:913 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... |
ORPHA:64743 |
Addison Disease |
|
Decreased circulating aldosterone level, Decreased circulating cortisol level, Primary adrenal in... |
ORPHA:85138 |
Adrenocortical Carcinoma |
|
Increased serum estradiol, Hyperaldosteronism, Increased urinary cortisol level, Increased circul... |
ORPHA:1501 |
Autoimmune Polyendocrinopathy Type 3 |
|
Autoimmune hypoparathyroidism, Leukopenia, Biliary cirrhosis, Alopecia, Non-caseating epithelioid... |
ORPHA:227982 |
Autoimmune Hepatitis |
|
Increased total bilirubin, Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepati... |
ORPHA:2137 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Lymphangiectasis, Hepatic failure, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hyperinsulinemic hyp... |
OMIM:602579 |
Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Leukopenia, Biliary cirrhosis, Alopecia, Non-caseating epithelioid cell granulomatosis, ... |
ORPHA:227990 |
Aicardi-Goutieres Syndrome 9 |
|
Hypothyroidism, Hepatic fibrosis, Anemia, Hemolytic anemia, Weight loss, Elevated hepatic transam... |
OMIM:619487 |
Tyrosinemia, Type I |
|
Hypermethioninemia, Cirrhosis, Hepatic failure, Anemia, Elevated hepatic transaminase, Hepatocell... |
OMIM:276700 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia |
OMIM:607676 |
Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Hepatitis, Neutrophilia, Elevated hepatic transaminase,... |
ORPHA:829 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Glycosuria, Hypophosphatemia, Elevated hepatic transaminase, Large for gestational age, Diabetes ... |
OMIM:616026 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Decreased proportion of CD3-positive T cells, ... |
ORPHA:331206 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test... |
ORPHA:293978 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... |
OMIM:262600 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia |
OMIM:619752 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperuricemia, Hyperalaninemia, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic ste... |
ORPHA:348 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hypothyroidism, Highly elevated creatine kinase, Elevated circulating creatine kinase concentrati... |
OMIM:251900 |
Aromatase Deficiency |
|
Enlarged polycystic ovaries, Type II diabetes mellitus, Insulin resistance, Eunuchoid habitus, He... |
ORPHA:91 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, L... |
OMIM:619846 |
Infantile Liver Failure Syndrome 2 |
|
Jaundice, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Acute hepatic failure |
OMIM:616483 |
Acute Monoblastic/Monocytic Leukemia |
|
Central hypothyroidism, Anemia, Weight loss, Lymphocytosis, Cervical lymphadenopathy, Acute monoc... |
ORPHA:514 |
Immunodeficiency 95 |
|
Lymphopenia |
OMIM:619773 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia |
OMIM:247800 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatic fibrosis, Malformation of the hepatic ductal plate, Cholestasis, Hepatomegaly, ... |
OMIM:615415 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated circulating aspar... |
OMIM:608779 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
High anterior hairline, Small for gestational age, Long eyelashes, Fine hair, Hypoglycemia |
ORPHA:231137 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Decreased CD4:CD8 r... |
OMIM:619573 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss, Hepatomegaly |
ORPHA:2198 |
Perlman Syndrome |
|
Hyperinsulinemia, Inguinal hernia, Hepatomegaly, Cryptorchidism, Abnormal pancreas morphology, Fe... |
ORPHA:2849 |
19P13.12 Microdeletion Syndrome |
|
Hypothyroidism, Precocious puberty, Synophrys, Hepatic steatosis, Hyperlipidemia, Cryptorchidism,... |
ORPHA:254346 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Hypothyroidism, Decreased body weight, Small for gestational age, Synophrys, Fine hair, Dorsocerv... |
ORPHA:391408 |
Primary Intestinal Lymphangiectasia |
|
Anemia, Reduced proportion of CD4+ effector memory T cells, Weight loss, Hypocalcemia, Lymphopeni... |
ORPHA:90362 |
Orthostatic Hypotension 2 |
|
Anemia, Hypoglycemia |
OMIM:618182 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Hypoglycemia, Long eyelashes, Hypogonadotropic hypogonadism |
ORPHA:48431 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia |
OMIM:612527 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hepatocellular carcinoma, Hepatic steatosis, H... |
OMIM:277900 |
Shigellosis |
|
Hepatic failure, Peritonitis, Abscess, Microangiopathic hemolytic anemia, Abnormal blood ion conc... |
ORPHA:810 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Anemia, Flexion contracture, Reduced subcutaneous adipose tissue, Failure ... |
OMIM:609069 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Thrombocytopenia, Neutropenia, Macrothrombocytopenia |
OMIM:603585 |
Glycogen Storage Disease Ia |
|
Hyperuricemia, Elevated hepatic transaminase, Hepatocellular carcinoma, Hypoglycemia, Delayed pub... |
OMIM:232200 |
Temple Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Small for gestational ... |
ORPHA:254516 |
Eosinophilic Gastroenteritis |
|
Anemia, Weight loss, Steatorrhea, Elevated circulating C-reactive protein concentration, Leukocyt... |
ORPHA:2070 |
Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Hypoplas... |
OMIM:601186 |
Bronchial Neuroendocrine Tumor |
|
Hepatic failure, Increased circulating cortisol level, Weight loss, Increased circulating ACTH le... |
ORPHA:97287 |
Barth Syndrome |
|
Fair hair, Hypochromic microcytic anemia, Failure to thrive, Cyclic neutropenia, Granulocytopenia... |
OMIM:302060 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hypercholesterolemia, Alopecia, Increased facial adipose tissue, Flexion contracture, Sparse scal... |
OMIM:248370 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased plasma carnitine |
ORPHA:79159 |
Erythrokeratodermia Variabilis |
|
Alopecia, Weight loss, Abnormal testis morphology, Diabetes mellitus, Abnormal hair morphology, G... |
ORPHA:317 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest... |
OMIM:207750 |
Bone Dysplasia, Lethal Holmgren Type |
|
Anemia, Hernia, Weight loss, Failure to thrive, Hepatomegaly |
ORPHA:1842 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Microvesicular hepatic steatosis, Anemia, Weight loss, Hypokalemia, Portal fibr... |
OMIM:619377 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Neonatal death, Polys... |
OMIM:208540 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating alanine aminotransferase concentration, Hepatitis, Elevated hepatic transami... |
OMIM:614921 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glycosuria, Jaundice, Hepatic steatosis, Hypoglycemia, Elevated circulating glutaric acid concent... |
OMIM:231680 |
Glucagonoma |
|
Intermittent jaundice, Parathyroid adenoma, Neoplasm of the pancreas, Increased circulating gonad... |
ORPHA:97280 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Hepatic failure, Microvesicular hepatic steatosis, Cirrhosis, Jaundice, Hyper... |
OMIM:617156 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Bile duct prolif... |
OMIM:618329 |
Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Pulmonary edema, Intracranial hemorrhage, Internal hemorrhage, Hypertension, Shock, ... |
ORPHA:340 |
Ppoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... |
ORPHA:97278 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypogonadism, Small for gestational age, Insulin resistance, Failure to thrive, Hypoglycemia, Neo... |
ORPHA:73272 |
Immunodeficiency 44 |
|
Elevated circulating alanine aminotransferase concentration, Lymphopenia |
OMIM:616636 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hyperalaninemia, Neutropenia, Small for gestational age, Elevated hepatic transaminase, Failure t... |
OMIM:615471 |
Grfoma |
|
Intermittent jaundice, Parathyroid adenoma, Neoplasm of the pancreas, Increased circulating gonad... |
ORPHA:97261 |
Eosinophilic Fasciitis |
|
Weight loss, Cellulitis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Jaundice,... |
ORPHA:276 |
Mpi-Cdg |
|
Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to thrive, Hepatomegaly,... |
ORPHA:79319 |
Acute Adrenal Insufficiency |
|
Hyperuricemia, Decreased circulating aldosterone level, Weight loss, Normocytic anemia, Sparse ax... |
ORPHA:95409 |
Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Weight loss, ... |
ORPHA:361 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Bone marrow hypocellularit... |
ORPHA:508542 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune... |
OMIM:102700 |
Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Inflammatory ... |
OMIM:123320 |
Secondary Intestinal Lymphangiectasia |
|
Cirrhosis, Decreased prealbumin level, Secondary hyperaldosteronism, Reduced circulating transfer... |
ORPHA:90363 |
Sheehan Syndrome |
|
Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Sparse axil... |
ORPHA:91355 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hypothyroidism, Hepatic fibrosis, Achilles tendon contracture, Steatorrhea, Hepatic steatosis, Fa... |
OMIM:616263 |
Idiopathic Aplastic Anemia |
|
Anemia, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
ORPHA:88 |
Fanconi Anemia, Complementation Group I |
|
Hypothyroidism, Decreased body weight, Decreased response to growth hormone stimulation test, Bon... |
OMIM:609053 |
Congenital Macroglossia |
|
Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Small for gestational age, Failure to thrive, Hypoglycemia, Hyperammonemia |
OMIM:614702 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve... |
OMIM:613986 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevated circulating... |
ORPHA:90791 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Lipodystrophy, Lymphadenopathy, Elevated circulating C-reactive protein concentrati... |
OMIM:617099 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
Klatskin Tumor |
|
Extrahepatic cholestasis, Weight loss, Jaundice, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly |
ORPHA:99978 |
Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Poikilocytosis, Anisocytosis, Bone marrow hypocellularity, Macrocytic anemia, Thr... |
OMIM:300835 |
Neutral Lipid Storage Myopathy |
|
Abnormal circulating creatine kinase concentration, Chronic pancreatitis, Very long chain fatty a... |
ORPHA:98908 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Small for gestational... |
OMIM:609015 |
Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Riboflavin Deficiency |
|
Hypoglycemia, Elevated circulating acylcarnitine concentration |
OMIM:615026 |
Hypoglossia With Situs Inversus |
|
Asplenia, Polysplenia |
OMIM:612776 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pulmonary edema, Pericardial effusion, Dilated cardiomyopathy, Congestive h... |
ORPHA:73224 |
Kasabach-Merritt Syndrome |
|
Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Hepatic hemangioma, Throm... |
ORPHA:2330 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... |
ORPHA:276152 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Diabetes mellitus, Delayed puberty, Delayed... |
OMIM:616033 |
Glucocorticoid Deficiency 2 |
|
Increased circulating ACTH level, Decreased circulating cortisol level, Recurrent hypoglycemia |
OMIM:607398 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Hepatitis, Lymphopenia, Hepatosplenomegaly, Eosinophilia, Decreased proportion of CD3-positive T ... |
ORPHA:169160 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Hyperammonemia, Ankle flexion contracture, Elevated circulating creatine kinase con... |
OMIM:618120 |
Glycogen Storage Disease Ixd |
|
Elevated circulating creatine kinase concentration, Increased muscle glycogen content, Glycogen a... |
OMIM:300559 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Curly hair, Trichorrhexis nodosa, Lymphocytosis, Sparse pubic hair, Curly ey... |
OMIM:258360 |
Cartilage-Hair Hypoplasia |
|
Sparse eyebrow, Anemia, Fair hair, Sparse facial hair, Lymphopenia, Fine hair, Impaired lymphocyt... |
OMIM:250250 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hypoketotic hypoglycemia, Hepatic failure, Elevated circulating acylcarnitine concentration, Decr... |
ORPHA:228308 |
Adrenomyodystrophy |
|
Hepatic steatosis, Failure to thrive, Primary adrenal insufficiency |
ORPHA:977 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Intermittent jaundice, Chronic noninfectious lymphadenopathy, Weight loss, Neoplasm of the liver,... |
ORPHA:100085 |
Thymic Aplasia |
|
Hypothyroidism, Hypocalcemic tetany, T lymphocytopenia, Coombs-positive hemolytic anemia, Thyroid... |
ORPHA:83471 |
Immunodeficiency 31C |
|
Hypothyroidism, Weight loss, Lymphopenia, Impaired lymphocyte transformation with phytohemaggluti... |
OMIM:614162 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Alopecia, Lymphopenia, Autoimmune thrombocytopenia, Thrombocytopenia |
OMIM:301080 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Hyperinsulinemia, Flexion contracture, Hyperglycemia, Brittle hair, Decreased adipose t... |
OMIM:608612 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Aspergillosis |
|
Hepatitis, Neutropenia, Eosinophilia |
ORPHA:1163 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Cachexia, Abnormality of mesentery morphology |
ORPHA:93941 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Abnormal testis morphology, Hypogonadism, Type II diabetes mellitus, Atypical s... |
ORPHA:791 |
Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Bone marrow hypocell... |
ORPHA:3261 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Keloids, Decreased testicular size, Type II diabetes mellitus, Polycystic ovari... |
ORPHA:3085 |
Fanconi Anemia, Complementation Group C |
|
Anemia, Flexion contracture, Reticulocytopenia, Small for gestational age, Pancytopenia, Bone mar... |
OMIM:227645 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypermethioninemia, Brittle hair, Hyperhomocystinemia, Hepatic steatosis, Inguinal hernia, Failur... |
OMIM:236200 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Small for gestational age,... |
ORPHA:26793 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia, Elevated circulating tiglylglycine concentration |
OMIM:300438 |
Pituitary Apoplexy |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:95613 |
Primary Sclerosing Cholangitis |
|
Cholangiocarcinoma, Elevated hepatic transaminase, Hepatocellular carcinoma, Chronic hepatic fail... |
ORPHA:171 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros... |
OMIM:619662 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Hyperammonemia, Hyperglycemia, Ac... |
OMIM:615453 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Perianal abscess, Hemolytic anemia, Granuloma, Lymphopenia, Hepatosplenomegaly, Ac... |
OMIM:618935 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla... |
OMIM:616005 |
Evans Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Autoimmune hemolytic anemia, Auto... |
ORPHA:1959 |
Silver-Russell Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Small for gestational age, Testicular semi... |
OMIM:180860 |
Dilated Cardiomyopathy With Ataxia |
|
Hypothyroidism, Microvesicular hepatic steatosis, Normochromic microcytic anemia, Bilateral crypt... |
ORPHA:66634 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Weight loss, Fine hair, Hypopigmentation of hair, Lymphadenopathy, G... |
ORPHA:2221 |
Leigh Syndrome |
|
Alopecia, Hepatic failure, Anemia, Hyperalaninemia, Multiple joint contractures, Frontal hirsutis... |
ORPHA:506 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Weight loss, Hepatitis, Lymphocytosis, Thyroiditis, Elevated hepatic transaminase, Lymphadenopath... |
ORPHA:139402 |
Liver Failure, Infantile, Transient |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Ja... |
OMIM:613070 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Enamel hypoplasia, Weight loss, Thyroiditis, Elevated hepatic transaminase, Type I diab... |
OMIM:212750 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Elevated hepatic tr... |
ORPHA:26791 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoketotic hypoglycemia, Diffuse hepatic steatosis, Chronic hepatic failure, Hypoparathyroidism,... |
ORPHA:746 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperammonemia |
OMIM:614739 |
Wiskott-Aldrich Syndrome |
|
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal eosinophil morphology, Lymphopenia, ... |
ORPHA:906 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Cirrhosis, Anemia, Slender build, Small for gestational age, Unconjugated hyperbilirubinemia, Ele... |
OMIM:613658 |
D-Bifunctional Protein Deficiency |
|
Very long chain fatty acid accumulation, Increased circulating very long-chain fatty acid concent... |
OMIM:261515 |
Immunodeficiency 55 |
|
Lymphadenopathy, Neutropenia, Absent natural killer cells, Lymphopenia |
OMIM:617827 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615595 |
Immunodeficiency 59 And Hypoglycemia |
|
High anterior hairline, Hypoglycemia, Decreased proportion of class-switched memory B cells, Hepa... |
OMIM:233600 |
Chronic Beryllium Disease |
|
Weight loss, Abnormal proportion of CD4-positive T cells, Mediastinal lymphadenopathy |
ORPHA:133 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Microvesicular hepatic steatosis, Hemolytic anemia, Hepatocellular necrosis, Elliptocytosis, Unco... |
OMIM:618278 |
Vici Syndrome |
|
Leukopenia, T lymphocytopenia, Albinism, Lymphopenia, Elevated circulating creatine kinase concen... |
OMIM:242840 |
Immunodeficiency 23 |
|
Hemolytic anemia, Lymphopenia, Failure to thrive, Eosinophilia, Neutropenia, Abscess |
OMIM:615816 |
Fanconi Anemia, Complementation Group E |
|
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Hypergonadotropic hypogonadis... |
OMIM:600901 |
Alveolar Echinococcosis |
|
Pancreatic cysts, Biliary cirrhosis, Hepatic cysts, Anemia, Weight loss, Abnormality of adrenal m... |
ORPHA:284 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Anemia, Glycosuria, Diffuse hepatic steatosis, Failure to thrive, Hepatomegaly, Decreased liver f... |
ORPHA:436271 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Hypoplasia of the thymus |
OMIM:617022 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Anemia, Primary testicular failure, Abnormal testis morphology, W... |
ORPHA:85450 |
Cryptogenic Organizing Pneumonia |
|
Weight loss, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis |
ORPHA:1302 |
Relapsing Fever |
|
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Neutrophilia, Elevated hepatic transamin... |
ORPHA:91547 |
Glutaric Acidemia I |
|
Failure to thrive, Hypoglycemia, Elevated circulating glutaric acid concentration, Hepatomegaly |
OMIM:231670 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
Macrocephaly/Autism Syndrome |
|
Hydrocele testis, Lymphopenia, Large for gestational age, Hepatomegaly, Coarse hair, Obesity, Spl... |
OMIM:605309 |
Liver Disease, Severe Congenital |
|
Peritonitis, Elevated hepatic transaminase, Portal inflammation, Hyperinsulinemic hypoglycemia, E... |
OMIM:619991 |
Hypotonia-Cystinuria Syndrome |
|
Decreased response to growth hormone stimulation test, Long eyelashes, Neonatal hypoglycemia, Fai... |
OMIM:606407 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Methylmalonic acidemia, Jaundice, Hyperhomocystinemia, Elevated circulating... |
ORPHA:79282 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia |
OMIM:618241 |
Neuroendocrine Tumor Of The Colon |
|
Weight loss, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Elevated hepatic tran... |
ORPHA:100080 |
Digeorge Syndrome |
|
Hypothyroidism, Anemia, Hypoplasia of the thymus, Hypocalcemia, Hydrocele testis, Hepatic steatos... |
OMIM:188400 |
Maple Syrup Urine Disease |
|
Hypoglycemia, Pancreatitis, Elevated plasma branched chain amino acids, Elevated circulating L-al... |
OMIM:248600 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Widow's peak, Neutrophilia, Cellulitis |
OMIM:266265 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Hypoplasia of the thymus, Morgagni diaphragmatic hernia, Inguinal hernia, Accessory spleen, Poste... |
OMIM:613177 |
Nephroblastoma |
|
Neoplasm of the liver, Lymphadenopathy, Weight loss |
ORPHA:654 |
Moynahan Syndrome |
|
Alopecia, Cachexia, Sparse hair, Hypogonadism |
ORPHA:2574 |
Fanconi Anemia, Complementation Group A |
|
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Hypergonadotropic hypogonadis... |
OMIM:227650 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Microvesicular hepatic steatosis, Periportal fibrosis, Hyperglycemia, Brittle hair, Elevated hepa... |
OMIM:124000 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss, Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves d... |
OMIM:275000 |
Poems Syndrome |
|
Hypothyroidism, Increased circulating prolactin concentration, Leukonychia, Weight loss, Hypogona... |
ORPHA:2905 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Hypothyroidism, Small for gestational age, Fine hair, Delayed puberty, Recurrent hypoglycemia, Cr... |
OMIM:616817 |
Chanarin-Dorfman Syndrome |
|
Hepatic steatosis, Alopecia, Hepatomegaly |
OMIM:275630 |
Hypoadrenocorticism, Familial |
|
Adrenal insufficiency, Hyperkalemia, Hypoglycemia, Hyponatremia, Adrenal hypoplasia |
OMIM:240200 |
Proprotein Convertase 1/3 Deficiency |
|
Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Reactive hypoglycemia, Obesity |
OMIM:600955 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemi... |
OMIM:238600 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Hyperhomocystinemia, Lymphopenia, Pancytopenia, Thrombocytosis, Macrocytic ... |
OMIM:617780 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypoketotic hypoglycemia, Hepatic failure, Elevated circulating acylcarnitine concentration, Decr... |
ORPHA:159 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia, Hypoglycemia |
OMIM:617710 |
Bachmann-Bupp Syndrome |
|
Sparse scalp hair, Hyperbilirubinemia, Large for gestational age, Hypoglycemia, Absent eyebrow, C... |
OMIM:619075 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neonatal death, Jaundice, Neonatal hypoglycemia, Failure to thrive, Neutropenia |
OMIM:617248 |
Atypical Werner Syndrome |
|
Decreased body weight, Abnormal testis morphology, Premature graying of hair, Hepatic steatosis, ... |
ORPHA:79474 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Neutropenia, Cryptorchidism |
OMIM:620012 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Thyroid hypoplasia, Hypoglycemia, Decreased circulating T4 concentration, Decreased circulating f... |
ORPHA:226307 |
Pituitary Stalk Interruption Syndrome |
|
Hypothyroidism, Diabetes insipidus, Ectopic posterior pituitary, Failure to thrive, Hypoglycemia,... |
ORPHA:95496 |
Neuroendocrine Tumor Of Stomach |
|
Chronic noninfectious lymphadenopathy, Hepatic failure, Weight loss, Increased circulating ACTH l... |
ORPHA:100075 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
Cog8-Cdg |
|
Failure to thrive, Hypoglycemia, Elevated hepatic transaminase |
ORPHA:95428 |
Tenorio Syndrome |
|
Hypoglycemia, Thick eyebrow, Hypertrichosis, Hypoinsulinemia |
OMIM:616260 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hyperthyroidism, Weight loss, Hypokalemia, Increased circulating T4 concentration, Decreased thyr... |
OMIM:613239 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... |
OMIM:615518 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Hepatic failure, Hyperalaninemia, Elevated hepatic transaminase, Elevated circulating creatine ki... |
OMIM:619355 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Hypoglycemia, Adrenal hyperplasia |
OMIM:201910 |
Agammaglobulinemia, X-Linked |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Enteroviral hepatitis, Hepatocellular carcinoma, Ly... |
OMIM:300755 |
Leprechaunism |
|
Central hypothyroidism, Hyperaldosteronism, Hyperinsulinemia, Decreased body weight, Reduced subc... |
ORPHA:508 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Neutropenia, Anisopoikilocytosis |
OMIM:619835 |
Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Increased C-peptide level, Precocious puberty, Premature graying of hair, Reduced... |
ORPHA:769 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hypoketotic hypoglycemia, Hepatic failure, Elevated circulating acylcarnitine concentration, Decr... |
ORPHA:157 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomeg... |
OMIM:616100 |
Cohen Syndrome |
|
Neutropenia, Long eyelashes, Obesity, Delayed puberty, Abnormal eyelash morphology, Cryptorchidis... |
ORPHA:193 |
Amoebiasis Due To Entamoeba Histolytica |
|
Anemia, Weight loss, Liver abscess, Elevated hepatic transaminase, Lung abscess, Leukocytosis, Hy... |
ORPHA:67 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Weight loss, Abnormal blood ion concentration, Steatorrhea, Failure to th... |
ORPHA:95427 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatic steatosis, Elevated hepatic transaminase, Abnormal circulating creatine kinase concentrat... |
ORPHA:369840 |
Immunodeficiency 14B, Autosomal Recessive |
|
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis |
OMIM:619281 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... |
ORPHA:1227 |
Thymic Carcinoma |
|
Weight loss, Neoplasm of the thymus, Mediastinal lymphadenopathy |
ORPHA:99868 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatomegaly, Failure to thr... |
OMIM:612852 |
Aicardi-Goutieres Syndrome 7 |
|
Hypothyroidism, Anemia, Hemolytic anemia, Weight loss, Hepatitis, Generalized lymphadenopathy, Pa... |
OMIM:615846 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Anemia, Elevated hepatic transaminase, Type I diabetes mellitus, Pancytopenia, Hepato... |
OMIM:615688 |
Polycythemia Vera |
|
Weight loss, Portal vein thrombosis, Hepatomegaly, Portal hypertension, Acute leukemia, Splenomegaly |
ORPHA:729 |
Fanconi Anemia, Complementation Group D2 |
|
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Bone marrow hypocellularity, ... |
OMIM:227646 |
Castleman Disease |
|
Anemia, Weight loss, Jaundice, Generalized lymphadenopathy, Decreased mean corpuscular volume, Ly... |
ORPHA:160 |
Timothy Syndrome |
|
Hypothyroidism, Hypoglycemia, Hypocalcemia |
OMIM:601005 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Aortic valve atresia, Mitral atresia, Pulmonary edema, Bicuspid aortic valve, Left ventricular hy... |
OMIM:220111 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated circulating alanine aminotransferase concentration, Anemia, Increased hepatic echogenici... |
OMIM:619525 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Hypothyroidism, Small for gestational age, Inguinal hernia, Hypoglycemia, Cryptorchidism |
ORPHA:397590 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Hypothyroidism, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Lymphadenopathy, Neu... |
OMIM:607944 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hepatic steatosis, Elevated circulating creatine kinase concentration |
ORPHA:52430 |
Monosomy 13Q34 |
|
Horizontal eyebrow, Insulin resistance, Hepatic steatosis, Hypercalcemia, Obesity |
ORPHA:96168 |
Whipple Disease |
|
Hypothyroidism, Anemia, Cachexia, Insulin resistance, Hepatomegaly, Mediastinal lymphadenopathy, ... |
ORPHA:3452 |
X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon... |
ORPHA:2442 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Anemia, Glycosuria, Increased intramyocellular lipid droplets, Failure to thrive, Hepatomegaly, D... |
OMIM:220110 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Synophrys, Hepatosplenomegaly, Cholecystitis, Hypoglycemia, Hepatomegaly, Obe... |
OMIM:301066 |
Neuroendocrine Tumor Of The Rectum |
|
Weight loss, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Elevated hepatic tran... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Weight loss, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Elevated hepatic tran... |
ORPHA:100082 |
Legionnaires Disease |
|
Splenomegaly, Cellulitis, Hepatitis, Jaundice, Lymphopenia, Lymphadenopathy, Bone marrow hypocell... |
ORPHA:549 |
Rothmund-Thomson Syndrome Type 1 |
|
Hypothyroidism, Anemia, Aplasia/Hypoplasia of the eyebrow, Hypogonadism, Calcinosis, Small for ge... |
ORPHA:221008 |
Noonan Syndrome 12 |
|
Thrombocytopenia, Decreased response to growth hormone stimulation test, Lymphopenia |
OMIM:618624 |
Dopamine Beta-Hydroxylase Deficiency |
|
Anemia, Hyperinsulinemia, Insulin resistance, Increased blood urea nitrogen, Hypoglycemia, Elevat... |
ORPHA:230 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Hypogonadism, Lipodystrophy, Hepatomegaly, Cholelithiasis |
OMIM:619273 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Weight loss, Elevated circulating C-reactive protein concentration, Leukocytosis |
ORPHA:2902 |
Toxic Epidermal Necrolysis |
|
Anemia, Neutropenia, Weight loss, Elevated hepatic transaminase, Thrombocytopenia, Acute hepatic ... |
ORPHA:537 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia, Intestinal lymphangiectasia, Lymphopenia |
OMIM:207731 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Gallbladder Neuroendocrine Tumor |
|
Intermittent jaundice, Extrahepatic cholestasis, Weight loss, Neuroendocrine neoplasm, Biliary tr... |
ORPHA:100086 |
Proteus-Like Syndrome |
|
Polycystic ovaries, Shagreen patch, Abnormality of the parathyroid gland, Thymus hyperplasia, Spl... |
ORPHA:2969 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioni... |
OMIM:277400 |
Fructose Intolerance, Hereditary |
|
Cirrhosis, Hyperuricemia, Glycosuria, Jaundice, Hypophosphatemia, Elevated hepatic transaminase, ... |
OMIM:229600 |
Treacher-Collins Syndrome |
|
Hypoplasia of the thymus, Absent eyelashes, Thyroid hypoplasia, Failure to thrive, Abnormality of... |
ORPHA:861 |
Psoriasis 14, Pustular |
|
Neutrophilia, Cholangitis, Elevated circulating C-reactive protein concentration, Leukocytosis, N... |
OMIM:614204 |
Bloom Syndrome |
|
Leukemia, Small for gestational age, Type II diabetes mellitus, Hepatic steatosis, Elevated hemog... |
OMIM:210900 |
Familial Isolated Dilated Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Lipoatrophy, Abnormality of neutrophils |
ORPHA:154 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:610006 |
Dubowitz Syndrome |
|
Sparse scalp hair, Sparse lateral eyebrow, Acute lymphoblastic leukemia, Inguinal hernia, Cryptor... |
OMIM:223370 |
22Q11.2 Deletion Syndrome |
|
Hypothyroidism, Hypoplasia of the thymus, Hyperthyroidism, Hypocalcemia, Inguinal hernia, Failure... |
ORPHA:567 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Thrombocytopenia, Hyperammonemia, Weight loss |
ORPHA:79242 |
Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Decreased proportion of memory... |
OMIM:619510 |
Caroli Syndrome |
|
Cholangiocarcinoma, Elevated hepatic transaminase, Hepatomegaly, Abnormality of the ductus choled... |
ORPHA:480520 |
Whim Syndrome |
|
Lymphadenitis, Abnormality of neutrophil morphology, Cellulitis, Lymphopenia, Parotitis, Neutropenia |
ORPHA:51636 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight, Abnormality of the hypothalamus-pituitary axis |
ORPHA:1672 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Fasting hypoglycemia, Thick eyebrow, Decreased response to growth hormone stimulation test |
ORPHA:436174 |
Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Failure to thrive, Hypoglycem... |
ORPHA:3008 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Abnormal lymph node morphology, Pituitary corticotropic cell adenoma, Decreased eosinophil count,... |
ORPHA:99889 |
Q Fever |
|
Anemia, Abnormality of the liver, Weight loss, Hepatitis, Granuloma, Elevated hepatic transaminas... |
ORPHA:781 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:229700 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Cirrhosis, Anemia, Alopecia, Premature graying of hair, Hepatic necrosis, Lymphopenia... |
OMIM:127550 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse eyebrow, Alopecia, Sparse scalp hair, Hypoplasia of the thymus, Flexion contracture, Incre... |
OMIM:264090 |
Eec Syndrome |
|
Sparse eyebrow, Hypoplasia of the thymus, Decreased response to growth hormone stimulation test, ... |
ORPHA:1896 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, B lymphocytopenia, Hepatitis, Neutropenia in presence of anti-neutropil antibo... |
ORPHA:391487 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... |
ORPHA:786 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Weight loss... |
ORPHA:103918 |
Khan-Khan-Katsanis Syndrome |
|
Anemia, Corneal scarring, Joint contracture, Lymphopenia, Failure to thrive, Neutropenia, Highly ... |
OMIM:618460 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity |
OMIM:618406 |
Diffuse Alveolar Hemorrhage |
|
Anemia, Weight loss, Leukocytosis, Elevated circulating creatinine concentration, Thrombocytopenia |
ORPHA:90060 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Immunodeficiency 49 |
|
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... |
OMIM:617237 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoornithinemia, Hyperalaninemia, Jaundice, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyper... |
OMIM:615751 |
Peripheral Primitive Neuroectodermal Tumor |
|
Anemia, Precocious puberty, Weight loss, Jaundice, Neoplasm of the pancreas, Elevated circulating... |
ORPHA:370348 |
Rothmund-Thomson Syndrome |
|
Sparse eyebrow, Anemia, Calcinosis, Small for gestational age, Alopecia totalis, Sparse eyelashes... |
ORPHA:2909 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Weight loss, Thrombocytosis, Splenomegaly, Chronic myelogenous leukemia |
ORPHA:71493 |
Marburg Hemorrhagic Fever |
|
Leukopenia, Elevated circulating creatinine concentration, Jaundice, Hypokalemia, Elevated hepati... |
ORPHA:99826 |
Common Variable Immunodeficiency |
|
Abnormality of the liver, Hemolytic anemia, Elevated hepatic transaminase, Lymphopenia, Autoimmun... |
ORPHA:1572 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Neonatal hypoglycemia, Elevated circulating creatine kinase concentrat... |
OMIM:619055 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Leukopenia, Anemia, Lymphopenia, Failure to thrive, Follicular hyperplasia, Thrombocytosis, Eleva... |
OMIM:615934 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Nodular goiter, Anaplastic thyroid carcinoma, Lymphadenopathy, Goiter |
ORPHA:142 |
Zygomycosis |
|
Brain abscess, Cellulitis, Hepatitis, Fasciitis, Diabetes mellitus, Mediastinal lymphadenopathy, ... |
ORPHA:73263 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Decreased circulating parathyroid hormone level, Hypercalcemia, Weight loss |
OMIM:143880 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Abnormal hair quantity, Hypoproteinemia, Lymphopenia |
ORPHA:1116 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Premature graying of hair, Abnormally low T cell receptor excision circle level, Pancytopenia, Ly... |
OMIM:619767 |
Cartilage-Hair Hypoplasia |
|
Sparse eyebrow, Anemia, Abnormality of the pancreas, Failure to thrive, Hepatomegaly, Hypocalcemi... |
ORPHA:175 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance |
ORPHA:369873 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:614924 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Failure to thrive, Rectal abscess, Neutropenia, B lymphocytopenia |
OMIM:601495 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Smith-Lemli-Opitz Syndrome |
|
Cirrhosis, Precocious puberty, Hepatic steatosis, Failure to thrive, Cryptorchidism, Hepatomegaly... |
OMIM:270400 |
Visceral Steatosis, Congenital |
|
Jaundice, Hepatic steatosis, Hypoglycemia, Hypocalcemia, Neonatal death |
OMIM:228100 |
Isolated Complex I Deficiency |
|
Failure to thrive, Hypoglycemia, Diabetes mellitus, Increased serum pyruvate, Hepatomegaly |
ORPHA:2609 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatic steatosis, Decreased liver function, Hepatomegaly |
OMIM:614922 |
Central Diabetes Insipidus |
|
Failure to thrive, Diabetes insipidus, Weight loss, Hyponatremia |
ORPHA:178029 |
Trichothiodystrophy |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Enamel hypoplasia, Tiger tail bandin... |
ORPHA:33364 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Sparse eyebrow, Alopecia, Increased circulating free fatty acid level, ... |
OMIM:610768 |
Immunodeficiency, Common Variable, 10 |
|
Decreased response to growth hormone stimulation test, Abnormal response to ACTH stimulation test... |
OMIM:615577 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Weight loss, Hepatosplenomegaly, Inguinal hernia, Failure to thrive, Hir... |
ORPHA:354 |
Renpenning Syndrome |
|
Alopecia, Decreased testicular size, Thin eyebrow, Cachexia, Diabetes mellitus, Abnormal hairshaf... |
ORPHA:3242 |
Reynolds Syndrome |
|
Biliary cirrhosis, Calcinosis, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Lymph... |
OMIM:613471 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatic failure, Hyperalaninemia, Increased intramyocellular lipid droplets, Failure to thrive, H... |
OMIM:252010 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Neutrophilia, Diabetes mellitus, Elevated circulating C-reactive protein concentratio... |
ORPHA:36238 |
Brucellosis |
|
Leukopenia, Anemia, Abnormality of the liver, Weight loss, Liver abscess, Hypersplenism, Granulom... |
ORPHA:1304 |
Rothmund-Thomson Syndrome Type 2 |
|
Anemia, Aplasia/Hypoplasia of the eyebrow, Calcinosis, Small for gestational age, Alopecia totali... |
ORPHA:221016 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612562 |
Short Syndrome |
|
Alopecia, Weight loss, Insulin resistance, Inguinal hernia, Lipodystrophy, Diabetes mellitus, Spa... |
ORPHA:3163 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:289548 |
Malonyl-Coa Decarboxylase Deficiency |
|
Hypoglycemia |
OMIM:248360 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Failure to thrive, Hyperammonemia, Microvesicular hepatic steatosis |
OMIM:616672 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Hyperleucinemia, Decreased plasma carnitine, Acute hyperammonemia, Failure to thrive, H... |
OMIM:210210 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Low anterior hairline, Reticulocytopenia, Small for gestation... |
ORPHA:124 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Abnormal circulating... |
ORPHA:168558 |
Sneddon Syndrome |
|
Atrophic scars, Lymphopenia |
OMIM:182410 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating aldosterone level, Decreased circulating cortisol level, Neonatal hypoglyce... |
ORPHA:90794 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating acylcarnitine concentration, Elevated hepatic transaminase, Elevated circula... |
ORPHA:480864 |
Holoprosencephaly |
|
Failure to thrive in infancy, Diabetes insipidus, Hyponatremia, Anterior hypopituitarism, Synophr... |
ORPHA:2162 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Neoplasm of the pancrea... |
ORPHA:652 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Flexion contracture, Decreased testicular size, Azotemia, Hepatic steatosis, Hypoplasia... |
OMIM:619321 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Sparse eyebrow, Flexion contracture, Glucose intolerance, Elevated hepatic transaminase, Nail dys... |
OMIM:619127 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hypothyroidism, Adrenocortical cytomegaly, Adrenocortical carcinoma, Polycythemia, L... |
ORPHA:116 |
Hermansky-Pudlak Syndrome |
|
Weight loss, Long eyelashes, Hypopigmentation of hair, Neutropenia, Abnormal dental enamel morpho... |
ORPHA:79430 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Nodular regenerative hyperplasia of liver, Microvesicular hepatic steatosis, Decreased LDL choles... |
ORPHA:404454 |
Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia, Sparse eyebrow, Sparse hair, Failure to thrive |
OMIM:244450 |
Flynn-Aird Syndrome |
|
Alopecia, Type II diabetes mellitus, Cachexia, Primary adrenal insufficiency, Abnormality of the ... |
ORPHA:2047 |
Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Hyperammonemia |
ORPHA:391428 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypothyroidism, Elevated circulating acylcarnitine concentration, Premature thelarche, Elevated h... |
OMIM:616878 |
Silver-Russell Syndrome |
|
Precocious puberty, Decreased testicular size, Cachexia, Insulin resistance, Recurrent hypoglycem... |
ORPHA:813 |
Silver-Russell Syndrome 2 |
|
Neonatal hypoglycemia |
OMIM:618905 |
Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Camptodactyly, Abdominal situs inversus, Cryptorchidism |
OMIM:619123 |
Ileal Neuroendocrine Tumor |
|
Hepatic failure, Extrahepatic cholestasis, Weight loss, Increased serum serotonin, Elevated hepat... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Hepatic failure, Extrahepatic cholestasis, Weight loss, Increased serum serotonin, Elevated hepat... |
ORPHA:100077 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Flexion contracture, Methylmalonic acidemia, Elevated hepatic transaminase, Increased intramyocel... |
ORPHA:17 |
D-Glyceric Aciduria |
|
Failure to thrive, Hypoglycemia, Nonketotic hyperglycinemia |
OMIM:220120 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypothyroidism, Hyperuricemia, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancr... |
ORPHA:93111 |
Deeah Syndrome |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Decreased b... |
OMIM:619004 |
Hereditary Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:30925 |
Takayasu Arteritis |
|
Anemia, Weight loss |
ORPHA:3287 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Hypokalemia, Hyperthyroidism, Goiter |
OMIM:188580 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Flexion contracture |
ORPHA:157973 |
Lymphoid Interstitial Pneumonia |
|
Abnormality of connective tissue, Weight loss, Failure to thrive, Mediastinal lymphadenopathy, He... |
ORPHA:79128 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transf... |
ORPHA:35078 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Selective Igm Deficiency |
|
Lymphadenitis, Thyroid carcinoma, Cellulitis, Neutropenia in presence of anti-neutropil antibodie... |
ORPHA:331235 |
Microsporidiosis |
|
Lymphadenitis, Brain abscess, Weight loss, Hepatitis, Peritonitis, Cachexia, Thyroiditis, Biliary... |
ORPHA:2552 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
T lymphocytopenia, Lymphopenia, Absent peripheral lymph nodes in presence of infection, Impaired ... |
OMIM:600802 |
Mcdonough Syndrome |
|
Synophrys, Cachexia, Cryptorchidism |
ORPHA:2471 |
Congenital Tufting Enteropathy |
|
Weight loss, Failure to thrive, Steatorrhea, Cholestatic liver disease |
ORPHA:92050 |
Sotos Syndrome |
|
High anterior hairline, Sparse eyebrow, Neonatal hypoglycemia, Cryptorchidism, Prolonged neonatal... |
OMIM:117550 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
Right Atrial Isomerism |
|
Inguinal hernia, Asplenia, Polysplenia, Abdominal situs ambiguus |
OMIM:208530 |
Al Amyloidosis |
|
Anemia, Howell-Jolly bodies, Abnormality of the liver, Weight loss, Increased circulating NT-proB... |
ORPHA:85443 |
Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Breast aplasia, Polycyst... |
OMIM:615363 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... |
OMIM:608203 |
X-Linked Intellectual Disability, Nascimento Type |
|
Synophrys, Lumbar hypertrichosis, Recurrent cutaneous abscess formation, Neonatal hyperbilirubine... |
ORPHA:163956 |
Basilicata-Akhtar Syndrome |
|
Precocious puberty, Camptodactyly, Neonatal hypoglycemia |
OMIM:301032 |
Familial Renal Glucosuria |
|
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Decreased response to growth hormone stimulation test, T lymphocytopenia, Abnormal B cell morphol... |
OMIM:618223 |
Shashi-Pena Syndrome |
|
Synophrys, Long eyelashes, Hypoglycemia, Highly arched eyebrow, Hypertrichosis |
OMIM:617190 |
Avian Influenza |
|
Leukopenia, Hepatitis, Elevated hepatic transaminase, Lymphopenia, Elevated circulating creatine ... |
ORPHA:454836 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus |
ORPHA:3004 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Anemia, Flexion contracture, Weight loss, Enthesitis, Hepatosplenomegaly, Lymphadenopathy |
ORPHA:85408 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:449400 |
Polymyositis |
|
Weight loss, Chondrocalcinosis, Hepatomegaly, Elevated circulating creatine kinase concentration |
ORPHA:732 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Large for gestational age, Neonatal hypoglycemia, Cryptorchidism |
ORPHA:457485 |
Pancreatoblastoma |
|
Abnormal lymph node morphology, Pancreatic calcification, Elevated maternal serum alpha-fetoprote... |
ORPHA:677 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Absence of secondar... |
ORPHA:785 |
Ménétrier Disease |
|
Hypochromic microcytic anemia, Hypoproteinemia, Weight loss, Hypoalbuminemia |
ORPHA:2494 |
Monosomy 22 |
|
Contractures of the large joints, Synophrys, Hepatosplenomegaly, Hypochromic microcytic anemia, A... |
ORPHA:96123 |
Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Polysplenia, Supernumerary nipple, Hepatoblastoma, Inguinal hernia, Cong... |
ORPHA:373 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Chondrocalcinosis, Weight loss, Thyroid carcinoma, Abnormality of the ... |
ORPHA:143 |
Pneumocystosis |
|
Abnormal neutrophil count, Weight loss |
ORPHA:723 |
Familial Colorectal Cancer Type X |
|
Pancreatic adenocarcinoma, Flexion contracture, Weight loss, Neoplasm of the pancreas, Hepatocell... |
ORPHA:440437 |
Intellectual Developmental Disorder, Autosomal Dominant 35 |
|
Hypoglycemia |
OMIM:616355 |
Multiple Myeloma |
|
Anemia, Weight loss, Lymphadenopathy, Hypercalcemia, Elevated circulating creatinine concentratio... |
ORPHA:29073 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Anemia, Hypokalemia, Cachexia, Hypocalcemia, Hypomagnesemia, Nail dystrophy |
OMIM:175500 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Small for gestational age, Neutropenia, Sparse hair |
OMIM:617799 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy, Weight loss |
ORPHA:411703 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Hypothyroidism, Anemia, Abnormal circulating lipid concentration, Insulin resistance, Lymphopenia... |
OMIM:616541 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Thyroid carcinoma, Cachexia, Hypoglycemia, Hashimoto thyroiditis,... |
ORPHA:109 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Lower-limb joint contracture, Reduced pancreatic beta cells, Neonatal insu... |
ORPHA:99885 |
Bullous Pemphigoid |
|
Diabetes mellitus, Weight loss |
ORPHA:703 |
Hirschsprung Disease |
|
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Hereditary Fructose Intolerance |
|
Hyperuricemia, Jaundice, Hypophosphatemia, Chronic hepatic failure, Hypermagnesemia, Reactive hyp... |
ORPHA:469 |
Familial Mediterranean Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatomegaly, ... |
OMIM:249100 |
Cushing Disease |
|
Pituitary corticotropic cell adenoma, Sparse scalp hair, Increased circulating cortisol level, Im... |
ORPHA:96253 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Hypothyroidism, Hepatic fibrosis, Anemia, Elevated hepatic transaminase, Lymphopenia, Severe B ly... |
OMIM:620005 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hypoglycemia, Hyponatremia |
OMIM:608688 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168811 |
Huntington Disease |
|
Decreased body mass index, Weight loss, Abnormal circulating cholesterol concentration |
ORPHA:399 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Biliary cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Increased circulating gonado... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Biliary cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Increased circulating gonado... |
ORPHA:99228 |
Monosomy X |
|
Biliary cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Increased circulating gonado... |
ORPHA:99226 |
Turner Syndrome |
|
Biliary cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Increased circulating gonado... |
ORPHA:881 |
Perlman Syndrome |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Congenital diaphragmatic hernia, Hy... |
OMIM:267000 |
Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Weight loss, Glycosuria, Decreased plasma carnitine, Hypophosphatemi... |
OMIM:219800 |
Christianson Syndrome |
|
Cachexia, Thick eyebrow, Arthrogryposis multiplex congenita |
ORPHA:85278 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Lynch Syndrome |
|
Pancreatic adenocarcinoma, Flexion contracture, Weight loss, Neoplasm of the pancreas, Hepatocell... |
ORPHA:144 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... |
ORPHA:760 |
Thymoma |
|
Weight loss, Leukemia, Imbalanced hemoglobin synthesis, Neoplasm of the thyroid gland, Aplastic a... |
ORPHA:99867 |
Sweeney-Cox Syndrome |
|
Asplenia, Bilateral cryptorchidism, Widow's peak, Generalized hirsutism, Low anterior hairline |
OMIM:617746 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Weight loss, Atypical scarring of skin |
ORPHA:704 |
Riboflavin Transporter Deficiency |
|
Diabetes insipidus, Cachexia, Hypogonadism |
ORPHA:97229 |
Immunodeficiency 82 With Systemic Inflammation |
|
Anemia, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Weight loss, Hep... |
OMIM:619381 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Hepatitis, Lymphopenia, Acute pancreatitis, Thrombocytopenia |
ORPHA:319218 |
Camurati-Engelmann Disease |
|
Leukopenia, Anemia, Hypogonadism, Abnormal subcutaneous fat tissue distribution, Cachexia, Delaye... |
ORPHA:1328 |
Primary Ciliary Dyskinesia |
|
Asplenia, Polysplenia |
ORPHA:244 |
Herpes Simplex Virus Encephalitis |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia |
ORPHA:1930 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypercalcemia, Weight loss, Paraganglioma |
ORPHA:94080 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:324964 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Asplenia, Abnormal liver lobulation, Cryptorchidism |
ORPHA:99776 |
Sarcoidosis |
|
Abnormal lymph node morphology, Hypothyroidism, Scarring, Increased T cell count, Parotitis, Hepa... |
ORPHA:797 |
Diamond-Blackfan Anemia 1 |
|
Reticulocytopenia, Failure to thrive, Thrombocytosis, Thrombocytopenia, Neutropenia, Elevated red... |
OMIM:105650 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Neonatal hypoglycemia |
OMIM:617600 |
Loeffler Endocarditis |
|
Weight loss, Eosinophilia |
ORPHA:75566 |
Focal Myositis |
|
Weight loss, Elevated circulating creatine kinase concentration |
ORPHA:48918 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Hypoglycemia, Supernumerary nipple, Contracture of the proximal interphalangeal joint of the 4th toe |
ORPHA:457279 |
Acute Liver Failure |
|
Hepatocellular necrosis, Hepatic necrosis, Jaundice, Hepatitis, Elevated hepatic transaminase, Ad... |
ORPHA:90062 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Reduced natural killer cell count, Perianal abscess, Weight loss, Lymphocytosis, Thrombocytosis, ... |
OMIM:301074 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia |
OMIM:244400 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, We... |
ORPHA:103910 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyebrow, Flexion contracture, Scarring alopecia of scalp, Neonatal hypoglycemia, Abnormal ... |
ORPHA:35173 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Leukocyte Adhesion Deficiency Type Ii |
|
Anemia, Small for gestational age, Broad eyebrow, Neutrophilia, Scarring, Long eyelashes, Failure... |
ORPHA:99843 |
Icf Syndrome |
|
Umbilical hernia, Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
Isolated Succinate-Coq Reductase Deficiency |
|
Knee flexion contracture, Weight loss |
ORPHA:3208 |
Hyper-Igd Syndrome |
|
Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:260920 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Flexion contracture, Decreased response to growth hormone stimulation test, Hypoglycemia, Thick e... |
OMIM:616007 |
Heterotaxy, Visceral, 2, Autosomal |
|
Asplenia, Polysplenia, Abdominal situs inversus |
OMIM:605376 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
Menkes Disease |
|
Chondrocalcinosis, Hernia, Woolly hair, Hypopigmentation of hair, Inguinal hernia, Hypoglycemia, ... |
ORPHA:565 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia, Hip contracture |
OMIM:616801 |
Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Neonatal hypoglycemia, Obesity, Long eyelashes, Broad lateral eyebrow |
OMIM:608624 |
Idiopathic Hypereosinophilic Syndrome |
|
Anemia, Pancreatitis, Elevated hepatic transaminase, Neutrophilia, Portal fibrosis, Cholangitis, ... |
ORPHA:3260 |
Stevens-Johnson Syndrome |
|
Anemia, Weight loss, Elevated hepatic transaminase, Abnormality of neutrophils, Thrombocytopenia,... |
ORPHA:36426 |
Giant Cell Arteritis |
|
Alopecia, Hepatic failure, Diabetes insipidus, Weight loss, Mediastinal lymphadenopathy |
ORPHA:397 |
Cowden Syndrome 1 |
|
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Lymphopenia, Ovarian carcinoma, O... |
OMIM:158350 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Incr... |
ORPHA:300373 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Asplenia, Annular pancreas |
ORPHA:210122 |
Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Curly hair, Brittle hair, Fine hair, Hypoglycemia, Abnormal dental ename... |
ORPHA:2710 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Anemia, Weight loss |
OMIM:256700 |
Arima Syndrome |
|
Anemia, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Hepatomegaly |
OMIM:243910 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Anemia, Abnormality of the pancreas, Fine hair, Lymphopenia, Inguinal hernia, White hair |
ORPHA:935 |
Mucolipidosis Type Ii |
|
Knee flexion contracture, Dry hair, Hip contracture, Weight loss, Fine hair, Hepatosplenomegaly, ... |
ORPHA:576 |
Malt Lymphoma |
|
Anemia, Weight loss, Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the thyroid gland |
ORPHA:52417 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Congenital foot contractures, Neonatal hypoglycemia, Cryptorchidism |
ORPHA:565624 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatic failure, Microvesicular hepatic steatosis, Jaundice, Elevated hepatic transaminase, Failu... |
OMIM:203700 |
Pyomyositis |
|
Weight loss, Recurrent cutaneous abscess formation, Testicular teratoma, Leukocytosis |
ORPHA:764 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Flexion contracture, Limb joint contracture, Arthrogryposis multiplex congenita |
OMIM:618186 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Thyrotoxicosis with toxic single thyroid nodule, Hyperthyroidism, Thyrotoxi... |
ORPHA:79102 |
Erdheim-Chester Disease |
|
Diabetes insipidus, Anemia, Retroperitoneal fibrosis, Weight loss, Xanthelasma, Hypogonadotropic ... |
ORPHA:35687 |
1P36 Deletion Syndrome |
|
Camptodactyly of finger, Hypothyroidism, Horizontal eyebrow, Abnormal eyebrow morphology, Abnorma... |
ORPHA:1606 |
Orthostatic Hypotension 1 |
|
Increased blood urea nitrogen, Neonatal hypoglycemia, Hypomagnesemia, Reduced circulating prolact... |
OMIM:223360 |
Wiedemann-Rautenstrauch Syndrome |
|
Camptodactyly of finger, Synophrys, Reduced subcutaneous adipose tissue, Hepatic steatosis, Hirsu... |
ORPHA:3455 |
Alström Syndrome |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Dorsocervical fat pad, Fron... |
ORPHA:64 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Exocrine pancreatic insufficiency, Iron deficiency anemia, Weight loss, Steatorrhea |
ORPHA:309031 |
Sweet Syndrome |
|
Acute myeloid leukemia, Anemia, Sterile abscess, Chronic lymphatic leukemia, Neutrophilia, Elevat... |
ORPHA:3243 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Congenital contracture |
OMIM:619036 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thrombocytopenia, Neonatal hypoglycemia |
ORPHA:572798 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Aspartylglucosaminuria |
|
Macroorchidism, Hernia, Hepatomegaly, Neutropenia, Vacuolated lymphocytes |
OMIM:208400 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Medial flaring of the eyebrow, Flexion contracture, Synophrys, Reduced subcutaneous adipose tissu... |
OMIM:619503 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Congenital hypothyroidism, Neutropenia |
OMIM:271510 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Hepatic cysts, Lymphopenia, Eosinophilia |
OMIM:617425 |
Xfe Progeroid Syndrome |
|
Enamel hypoplasia, Corneal scarring, Cachexia, Elevated hepatic transaminase, Failure to thrive, ... |
OMIM:610965 |
Non-Acquired Panhypopituitarism |
|
Abnormality of secondary sexual hair, Anterior pituitary hypoplasia, Decreased response to growth... |
ORPHA:90695 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kin... |
OMIM:615356 |
Pediatric Systemic Lupus Erythematosus |
|
Leukopenia, Alopecia, Microangiopathic hemolytic anemia, Lymphopenia, Lymphadenopathy, Thrombocyt... |
ORPHA:93552 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Generalized hirsutism, Elevated circulating creatine kinase concentration |
ORPHA:1933 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Chronic neutropenia, Camptodactyly, Large for gestational age, Inguinal hernia, Transient neutrop... |
ORPHA:500095 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Small for gestational age, Hypoglycemia, Umbilical hernia |
OMIM:614501 |
Kabuki Syndrome 2 |
|
Sparse lateral eyebrow, Decreased body weight, Long eyelashes, Neonatal hypoglycemia, Hirsutism, ... |
OMIM:300867 |
Thauvin-Robinet-Faivre Syndrome |
|
Inguinal hernia, Large for gestational age, Transient neutropenia |
OMIM:617107 |
Cholera |
|
Hypokalemia, Abnormal blood ion concentration, Hypoglycemia, Hyponatremia, Hypocalcemia |
ORPHA:173 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Euthyroid hyperthyroxinemia, Increased circulating gonadotropin level, ... |
ORPHA:91347 |
19Q13.11 Microdeletion Syndrome |
|
Sparse lateral eyebrow, Cachexia, Supernumerary nipple, Fine hair, Failure to thrive, Cryptorchid... |
ORPHA:217346 |
Sarcoidosis, Susceptibility To, 1 |
|
Weight loss, Generalized lymphadenopathy, Pancytopenia, Abnormal salivary gland morphology, Hepat... |
OMIM:181000 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Chronic lymphatic leukemia, Weight loss |
ORPHA:91139 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Weight loss, Small for g... |
ORPHA:424 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Small for gestational ... |
ORPHA:96182 |
Nocardiosis |
|
Lymphadenitis, Brain abscess, Weight loss, Cellulitis, Liver abscess, Thyroiditis, Cutaneous absc... |
ORPHA:31204 |
Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Asplenia, Malformation of the hepatic ductal plate, Elevated amniotic fl... |
OMIM:249000 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Knee flexion contracture, Cirrhosis, Microvesicular hepatic steatosis, Flexion contracture, Hip c... |
OMIM:300868 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Knee flexion contracture, Hip contracture, Elbow flexion contracture, Cachexia, Severe failure to... |
ORPHA:371364 |
Polyarteritis Nodosa |
|
Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:767 |
Tetrasomy 12P |
|
Sparse eyebrow, Cachexia, Sparse hair |
ORPHA:884 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating progesterone, Elevated circulating 17-hydroxyprogesterone concentration, Jo... |
OMIM:201750 |
Heterotaxy, Visceral, 1, X-Linked |
|
Asplenia, Biliary atresia, Polysplenia, Failure to thrive, Hepatomegaly, Omphalocele, Abdominal s... |
OMIM:306955 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss, Glycosuria, Decreased plasma carnitine, Hypophosphatemia, Hypokalemia, Hypoglycemia,... |
ORPHA:3337 |
Meckel Syndrome |
|
Pancreatic cysts, Asplenia, Pancreatic fibrosis, Accessory spleen, Cryptorchidism, Cystic liver d... |
ORPHA:564 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Weight loss, Nodular goiter, Thyroiditis, Abnormality of the submandibu... |
ORPHA:79078 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Abnormality of the anterior pituitary, Decreased retinol-binding protein level, Re... |
ORPHA:449395 |
Rat-Bite Fever |
|
Lymphadenitis, Anemia, Weight loss, Parotitis, Pancreatitis |
ORPHA:31205 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Cachexia |
ORPHA:1438 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hepatic fibrosis, Anemia, Cachexia, Pancytopenia, Hepatosplenomegaly, Delayed puberty, Thrombocyt... |
ORPHA:2072 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Hyperinsulinemia, Aplasia/Hypoplasia of the eyebrow, Decreased response to growth hormo... |
ORPHA:3464 |
Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Adrenocortical carcinoma, Neonatal hypoglycemia, Hepatoblastoma, Hepatome... |
OMIM:130650 |
Lujo Hemorrhagic Fever |
|
Leukopenia, Fulminant hepatitis, Elevated hepatic transaminase, Lymphopenia, Elevated circulating... |
ORPHA:319213 |
X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Hypogonadism, Decreased testicular size, Synophrys, Cachexia, Inguinal h... |
ORPHA:85293 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Weight loss, Eosinophilia |
ORPHA:183 |
African Trypanosomiasis |
|
Alopecia, Weight loss, Abnormality of circulating cortisol level, Jaundice, Hepatosplenomegaly, A... |
ORPHA:3385 |
Fanconi Anemia |
|
Leukopenia, Anemia, Abnormality of the liver, Abnormal testis morphology, Weight loss, Pyridoxine... |
ORPHA:84 |
Feingold Syndrome 1 |
|
Asplenia, Polysplenia, Accessory spleen, Annular pancreas |
OMIM:164280 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Decreased body weight, Synophrys, Jaundice, Broad eyebrow, Elevated hepatic transaminase, Obesity... |
OMIM:619475 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Weight loss, Paraganglioma of head and neck, Hypercalcemia, Paraganglioma, Extraadrenal pheochrom... |
ORPHA:276621 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Obesity, Weight loss, Cryptorchidism |
ORPHA:251071 |
Familial Gestational Hyperthyroidism |
|
Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Weight loss, Thyrotoxico... |
ORPHA:99819 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Hepatic steatosis, Sparse hair, Joint contracture of the 5th finger |
OMIM:619934 |
Pseudoaminopterin Syndrome |
|
Asplenia, Sparse scalp hair, Frontal upsweep of hair, Inguinal hernia, Posterolateral diaphragmat... |
ORPHA:221120 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia |
ORPHA:2774 |
Igg4-Related Retroperitoneal Fibrosis |
|
Weight loss, Normocytic anemia, Hydrocele testis, Increased blood urea nitrogen, Hashimoto thyroi... |
ORPHA:49041 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Abnormality of secondary sexual hair, Anterior pituitary hypoplasia, Decreased response to growth... |
ORPHA:95494 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Prader-Willi Syndrome |
|
Failure to thrive in infancy, Hyperinsulinemia, Precocious puberty, Decreased response to growth ... |
OMIM:176270 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Asplenia |
OMIM:619657 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss |
ORPHA:35710 |
Crimean-Congo Hemorrhagic Fever |
|
Leukopenia, Hepatic failure, Hemoperitoneum, Adrenal insufficiency, Jaundice, Neutrophilia, Pancy... |
ORPHA:99827 |
Cerebral Visual Impairment |
|
Neonatal hypoglycemia |
ORPHA:447788 |
Tetraamelia Syndrome 1 |
|
Asplenia, Congenital diaphragmatic hernia, Adrenal gland agenesis |
OMIM:273395 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Weight loss, Elevated calcitonin, Paraganglioma of head and neck, Hypercalcemia, Paraganglioma, E... |
ORPHA:29072 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Hennekam Syndrome |
|
Camptodactyly of finger, Sparse axillary hair, Pulmonary lymphangiectasia, Lymphopenia, Lymphaden... |
ORPHA:2136 |
Cockayne Syndrome |
|
Enamel hypoplasia, Dry hair, Contractures of the large joints, Hyperuricemia, Reduced subcutaneou... |
ORPHA:191 |
Granulomatosis With Polyangiitis |
|
Granulomatosis, Weight loss |
OMIM:608710 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anemia, Elevated hepatic transaminase, Atypical scarring of skin, Neutropenia, Nail dystrophy, Tr... |
ORPHA:95455 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
Rheumatoid Arthritis |
|
Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
Acquired Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:95626 |
Granulomatosis With Polyangiitis |
|
Diabetes insipidus, Weight loss, Granulomatosis, Elevated circulating C-reactive protein concentr... |
ORPHA:900 |
Costello Syndrome |
|
Lymphangiectasis, Curly hair, Achilles tendon contracture, Failure to thrive, Hypoglycemia, Spars... |
OMIM:218040 |
Steinert Myotonic Dystrophy |
|
Hypercholesterolemia, Alopecia, Hyperinsulinemia, Decreased response to growth hormone stimulatio... |
ORPHA:273 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Sponastrime Dysplasia |
|
Small for gestational age, Hypothyroidism, Neutropenia, Precocious puberty |
ORPHA:93357 |
Proteus Syndrome |
|
Macroorchidism, Diabetes insipidus, Neoplasm of the thymus, Enlarged polycystic ovaries, Abnormal... |
ORPHA:744 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Pulmonary lymphangiectasia, Annular pancreas, Omphalocele, Neonatal death |
OMIM:265380 |
Malignant Atrophic Papulosis |
|
Peritonitis, Weight loss |
ORPHA:679 |
Yao Syndrome |
|
Weight loss |
OMIM:617321 |
Primary Sjögren Syndrome |
|
Leukopenia, Biliary cirrhosis, Decreased proportion of CD4-positive helper T cells, Chronic activ... |
ORPHA:289390 |
Juvenile Polyposis Of Infancy |
|
Anemia, Cachexia, Subcutaneous lipoma, Refractory anemia, Hypoalbuminemia |
ORPHA:79076 |
Pulmonary Alveolar Microlithiasis |
|
Abnormal circulating calcium concentration, Testicular microlithiasis, Weight loss, Increased cir... |
ORPHA:60025 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia, Lower-limb joint contracture, Upper-limb joint contracture |
ORPHA:300605 |
Pelizaeus-Merzbacher Disease |
|
Cachexia, Failure to thrive in infancy |
ORPHA:702 |
Behçet Disease |
|
Splenomegaly, Weight loss, Lymphadenopathy, Orchitis, Pancreatitis |
ORPHA:117 |
Renal Nutcracker Syndrome |
|
Anemia, Weight loss |
ORPHA:71273 |
Homozygous Familial Hypercholesterolemia |
|
Hepatic steatosis, Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia |
ORPHA:391665 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Cachexia, Autoimmune hemolytic anemia, Abnormal hair quantity, Abnormal hair mo... |
ORPHA:647 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Weight loss, Elevated circulating alpha-fetoprotein concentration |
ORPHA:420741 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Fasting hypoglycemia |
ORPHA:25 |
Schwartz-Jampel Syndrome |
|
Wrist flexion contracture, Abnormal eyebrow morphology, Hip contracture, Decreased body weight, F... |
ORPHA:800 |
Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
Yellow Fever |
|
Elevated circulating alanine aminotransferase concentration, Pancreatic hyperplasia, Jaundice, Ne... |
ORPHA:99829 |
Acrodermatitis Enteropathica |
|
Alopecia, Abnormal eyebrow morphology, Failure to thrive, Weight loss |
ORPHA:37 |
Postinfectious Vasculitis |
|
Weight loss, Elevated haptoglobin level, Viral hepatitis, Elevated circulating C-reactive protein... |
ORPHA:48435 |
Isotretinoin-Like Syndrome |
|
Inguinal hernia, Hypocalcemia, Lymphopenia |
ORPHA:2306 |
Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
X-Linked Creatine Transporter Deficiency |
|
Cachexia, Abnormal circulating creatine concentration |
ORPHA:52503 |
Juvenile Dermatomyositis |
|
Alopecia, Weight loss, Calcinosis, Elevated circulating creatine kinase concentration, Elevated c... |
ORPHA:93672 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Perianal abscess, Impaired neutrophil chemotaxis, Polycythemia, Hyperinsu... |
ORPHA:2968 |
Dermatomyositis |
|
Weight loss, Cellulitis, Abnormal eosinophil morphology, Abnormal hair quantity, Chondrocalcinosis |
ORPHA:221 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia, Steatorrhea |
ORPHA:3217 |
Choreoacanthocytosis |
|
Elevated circulating alanine aminotransferase concentration, Weight loss, Abnormal erythrocyte en... |
ORPHA:2388 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Weight loss, Elevated circulating deoxyuridine concentration, Cachexia, Slender build, Elevated c... |
OMIM:603041 |
Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Sparse eyebrow, Broad eyebrow, Large for gestational age, Neonatal hypoglycemia, Slender build |
ORPHA:457359 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... |
OMIM:301000 |
Chronic Graft Versus Host Disease |
|
Alopecia, Flexion contracture, Weight loss, Fasciitis, Elevated hepatic transaminase, Pancytopeni... |
ORPHA:99921 |
Trisomy 18 |
|
Camptodactyly of finger, Hernia, Cachexia, Congenital diaphragmatic hernia, Cryptorchidism, Ompha... |
ORPHA:3380 |
Heterotaxy, Visceral, 5, Autosomal |
|
Abdominal situs inversus, Asplenia, Abdominal situs ambiguus |
OMIM:270100 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Weight loss, Mildly elevated creatine kinase |
OMIM:607459 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Weight loss |
ORPHA:747 |
Hutchinson-Gilford Progeria Syndrome |
|
Female hypogonadism, Dystrophic toenail, Pubertal developmental failure in females, Weight loss, ... |
ORPHA:740 |
Tropical Endomyocardial Fibrosis |
|
Cachexia, Hepatomegaly, Eosinophilia, Splenomegaly, Hypoalbuminemia |
ORPHA:75565 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Rett Syndrome |
|
Cachexia |
OMIM:312750 |
Carney-Stratakis Syndrome |
|
Weight loss, Paraganglioma |
ORPHA:97286 |
Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
Pmm2-Cdg |
|
Hepatic fibrosis, Increased circulating prolactin concentration, Elevated circulating thyroid-sti... |
ORPHA:79318 |
Sotos Syndrome |
|
Bilateral camptodactyly, Hypothyroidism, Flexion contracture, Hip contracture, Acute lymphoblasti... |
ORPHA:821 |
Myopathy, Myofibrillar, 6 |
|
Knee flexion contracture, Myofibrillar myopathy, Restrictive cardiomyopathy, Generalized amyotrop... |
OMIM:612954 |
Congenital Fiber-Type Disproportion Myopathy |
|
Knee flexion contracture, Flexion contracture, Hip contracture, Weight loss, Elbow flexion contra... |
ORPHA:2020 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Weight loss |
ORPHA:1018 |
Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia |
ORPHA:1848 |
Reactive Arthritis |
|
Enthesitis, Dystrophic fingernails, Weight loss |
ORPHA:29207 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Reduced hematocrit, Weight loss, Normocytic anemia, Elevated circulating C-reactive protein conce... |
ORPHA:91500 |
Seckel Syndrome |
|
Cachexia, Sparse scalp hair, Abnormal dental enamel morphology |
ORPHA:808 |
Hereditary Late-Onset Parkinson Disease |
|
Weight loss |
ORPHA:411602 |
Oculopharyngodistal Myopathy 1 |
|
Weight loss, Elevated circulating creatine kinase concentration |
OMIM:164310 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Abnormality of the thyroid gland |
ORPHA:1969 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Flexion contracture, Broad eyebrow, Camptodactyly, Hydrocele testis, Failure to thrive,... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Asplenia, Horizontal eyebrow, Flexion contracture, Decreased body weight, Broad eyebrow, Camptoda... |
ORPHA:2152 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia |
ORPHA:220295 |
Goodpasture Syndrome |
|
Increased blood urea nitrogen, Anemia, Weight loss |
OMIM:233450 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Flexion contracture, Broad eyebrow, Camptodactyly, Hydrocele testis, Failure to thrive,... |
ORPHA:261552 |
Marfan Syndrome |
|
Slender build, Inguinal hernia, Cachexia |
ORPHA:558 |
Holoprosencephaly 1 |
|
Diabetes insipidus, Hypoglycemia, Adrenal hypoplasia |
OMIM:236100 |
Stickler Syndrome |
|
Slender build, Cachexia, Abnormal dental enamel morphology |
ORPHA:828 |
Norrie Disease |
|
Cachexia, Failure to thrive, Delayed puberty, Diabetes mellitus, Cryptorchidism |
ORPHA:649 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:613881 |